A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3890827



Internal ID18838443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31991487..32022321hg38UCSC Ensembl
Outerchr6:31981575..32043703hg38UCSC Ensembl
Innerchr6:31959264..31990098hg19UCSC Ensembl
Outerchr6:31949352..32011480hg19UCSC Ensembl
Innerchr6:32067243..32098076hg18UCSC Ensembl
Outerchr6:32057331..32119459hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3862129
hg1962129
hg1862129
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25791356, essv25778567, essv25780078, essv25800801, essv25791823, essv25784674, essv25778250, essv25792951, essv25799065, essv25799069, essv25785684, essv25791390, essv25780207, essv25787135, essv25787298, essv25779523, essv25788043, essv25798964, essv25789388, essv25780437, essv25792611, essv25778883, essv25782356
Samples
Known GenesC4A, C4B, C4B_2, CYP21A1P, CYP21A2, STK19, TNXA, TNXB
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3890827
Frequency
Sample Size3017
Observed Gain7
Observed Loss16
Observed Complex0
Frequencyn/a


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