A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752119



Internal ID12638985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31391844..31530744hg38UCSC Ensembl
Innerchr6:31359621..31498521hg19UCSC Ensembl
Innerchr6:31467600..31606500hg18UCSC Ensembl
Innerchr6:31467600..31606500hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38138901
hg19138901
hg18138901
hg17138901
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv213e55
Supporting Variantsessv6982061, essv6988488, essv6982062, essv6982063, essv6986075
SamplesBEC_516
Known GenesATP6V1G2-DDX39B, DDX39B, HCG26, HCP5, MCCD1, 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)esv2752119
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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