A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752121



Internal ID12638987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31391871..31498018hg38UCSC Ensembl
Innerchr6:31359648..31465795hg19UCSC Ensembl
Innerchr6:31467627..31573774hg18UCSC Ensembl
Innerchr6:31467627..31573774hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38106148
hg19106148
hg18106148
hg17106148
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv215e55
Supporting Variantsessv6984647, essv6989997, essv6989445, essv6984646
SamplesSPC_162
Known GenesHCG26, HCP5, MICA
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752121
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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