A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25782356



Internal ID18817054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31985690..32029276hg38UCSC Ensembl
Innerchr6:31953467..31997053hg19UCSC Ensembl
Innerchr6:32061446..32105046hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3843587
hg1943587
hg1843601
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=53
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25782356
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer