A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987417



Internal ID12629246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31445184..31489801hg38UCSC Ensembl
Innerchr6:31412961..31457578hg19UCSC Ensembl
Innerchr6:31520940..31565557hg18UCSC Ensembl
Innerchr6:31520940..31565557hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3844618
hg1944618
hg1844618
hg1744618
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752118
Supporting Variants
SamplesBEC_627
Known GenesHCG26, HCP5
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987417
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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