A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25800801



Internal ID18821154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31981575..32042485hg38UCSC Ensembl
Innerchr6:31949352..32010262hg19UCSC Ensembl
Innerchr6:32057331..32118241hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3860911
hg1960911
hg1860911
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=71
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25800801
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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