A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25778250



Internal ID18826277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31981575..32038826hg38UCSC Ensembl
Innerchr6:31949352..32006603hg19UCSC Ensembl
Innerchr6:32057331..32114582hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3857252
hg1957252
hg1857252
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=68
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25778250
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