A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751137



Internal ID12984689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:24152887..24381918hg38UCSC Ensembl
Innerchr13:24727026..24956056hg19UCSC Ensembl
Innerchr13:23625026..23854056hg18UCSC Ensembl
Innerchr13:23625026..23854056hg17UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38229032
hg19229031
hg18229031
hg17229031
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6984254, essv6984253, essv6984252, essv6988776, essv6984255
SamplesBEC_681
Known GenesC1QTNF9, MIR2276, SPATA13, SPATA13-AS1
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)esv2751137
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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