A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751131



Internal ID12984683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:18488179..18740439hg38UCSC Ensembl
Innerchr13:19062319..19314579hg19UCSC Ensembl
Innerchr13:17960319..18212579hg18UCSC Ensembl
Innerchr13:17960319..18212579hg17UCSC Ensembl
Cytoband13q11
Allele length
AssemblyAllele length
hg38252261
hg19252261
hg18252261
hg17252261
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv73e55
Supporting Variantsessv6986313, essv6982986
SamplesBEC_531
Known GenesLINC00417
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751131
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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