A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986279



Internal ID12628936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31445144..31472744hg38UCSC Ensembl
Innerchr6:31412921..31440521hg19UCSC Ensembl
Innerchr6:31520900..31548500hg18UCSC Ensembl
Innerchr6:31520900..31548500hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3827601
hg1927601
hg1827601
hg1727601
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752123
Supporting Variants
SamplesBEC_603
Known GenesHCG26, HCP5
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986279
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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