A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987537



Internal ID12631212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31445144..31481444hg38UCSC Ensembl
Innerchr6:31412921..31449221hg19UCSC Ensembl
Innerchr6:31520900..31557200hg18UCSC Ensembl
Innerchr6:31520900..31557200hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3836301
hg1936301
hg1836301
hg1736301
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752117
Supporting Variants
SamplesBEC_814
Known GenesHCG26, HCP5
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987537
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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