A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752118



Internal ID12638984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31385552..31513544hg38UCSC Ensembl
Innerchr6:31353329..31481321hg19UCSC Ensembl
Innerchr6:31461308..31589300hg18UCSC Ensembl
Innerchr6:31461308..31589300hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38127993
hg19127993
hg18127993
hg17127993
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv213e55
Supporting Variantsessv6987417, essv6983787, essv6983788, essv6983789
SamplesBEC_627
Known GenesHCG26, HCP5, MICA, MICB
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)esv2752118
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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