Whole Exome Sequence of 184 Individuals with 22q11.2 Deletion Syndrome

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Demographics (2)

SEX - Gender of participant (phv00252851.v1.p1)
SEX - Gender (phv00252843.v1.p1)

Disease Events (2)

HEART_ANOMALY - Presence or absence of a heart or aortic arch anomaly (phv00252854.v1.p1)
HEART_ANOMALY_TYPE - Type of heart defect or presence of a specific anomaly (phv00252855.v1.p1)

Race and Ethnicity (1)

SELF_REPORT_RACE - Race of participant reported by the subject (phv00252852.v1.p1)

Other (23)

22q11.2DS - 22q11.2 deletion syndrome (phv00252850.v1.p1)
AFFECTION_STATUS - 22q11DS case control status of the subject (phv00252838.v1.p1)
ANALYTE_TYPE - Analyte Type (phv00252859.v1.p1)
BODY_SITE - Body site where sample was taken (phv00252857.v1.p1)
CELL_LINE - DNA derived from cell line (phv00252858.v1.p1)
CONSENT - Consent group as determined by DAC (phv00252835.v1.p1)
ETHNICITY - Ethnicity of participant (phv00252853.v1.p1)
FAMILY_ID - Family ID (phv00252839.v1.p1)
FATHER - Father's Subject ID (phv00252842.v1.p1)
MOTHER - Mother's Subject ID (phv00252841.v1.p1)
PROBAND - Subject with 22q11.2DS (phv00252861.v1.p1)
SAMPLE_ID - De-identified Sample ID (phv00252856.v1.p1)
SAMPLE_ID - Sample ID (phv00252845.v1.p1)
SAMPLE_SOURCE - Source clinical research site where samples originate (phv00252846.v1.p1)
SAMPLE_USE - Sample Use. Seq_DNA_SNP_CNV: SNP and CNV genotypes derived from sequence data; Seq_DNA_WholeExome: Whole exome sequencing (phv00252848.v1.p1)
SEQUENCING_CENTER - Name of the center which conducted sequencing (phv00252860.v1.p1)
SOURCE_SAMPLE_ID - Sample ID used in the Source clinical research site (phv00252847.v1.p1)
SOURCE_SUBJECT_ID - Subject ID used in the source clinical research site (phv00252837.v1.p1)
SUBJECT_ID - De-identified Subject ID (phv00252849.v1.p1)
SUBJECT_ID - Subject ID (phv00252834.v1.p1)
SUBJECT_ID - Unique Subject ID (phv00252840.v1.p1)
SUBJECT_ID - Subject ID (phv00252844.v1.p1)
SUBJECT_SOURCE - Source clinical research site where subjects originate (phv00252836.v1.p1)