A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987266



Internal ID12637375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31385103..31489801hg38UCSC Ensembl
Innerchr6:31352880..31457578hg19UCSC Ensembl
Innerchr6:31460859..31565557hg18UCSC Ensembl
Innerchr6:31460859..31565557hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38104699
hg19104699
hg18104699
hg17104699
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752115
Supporting Variants
SamplesSPC_54
Known GenesHCG26, HCP5, MICA
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987266
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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