A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25779523



Internal ID18825355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31983430..32020728hg38UCSC Ensembl
Innerchr6:31951207..31988505hg19UCSC Ensembl
Innerchr6:32059186..32096483hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3837299
hg1937299
hg1837298
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890827
Supporting Variants
Samples
Known GenesC4A, C4B, C4B_2, CYP21A1P, CYP21A2, STK19, TNXA, TNXB
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=47
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25779523
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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