A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789388



Internal ID18813997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31986571..32038826hg38UCSC Ensembl
Innerchr6:31954348..32006603hg19UCSC Ensembl
Innerchr6:32062327..32114582hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3852256
hg1952256
hg1852256
Variant TypeCNV gain
Copy Number3
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=61
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789388
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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