A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25780123



Internal ID19163929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31995667..32013259hg38UCSC Ensembl
Innerchr6:31963444..31981036hg19UCSC Ensembl
Innerchr6:32071423..32089014hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3817593
hg1917593
hg1817592
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890825
Supporting Variants
Samples
Known GenesC4A, C4B, C4B_2, CYP21A1P, CYP21A2, TNXA, TNXB
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=20
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25780123
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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