A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751152



Internal ID12638018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:75570063..75714282hg38UCSC Ensembl
Innerchr13:76144199..76288418hg19UCSC Ensembl
Innerchr13:75042200..75186419hg18UCSC Ensembl
Innerchr13:75042200..75186419hg17UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg38144220
hg19144220
hg18144220
hg17144220
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6982321, essv6982322
SamplesBEC_416
Known GenesLMO7, UCHL3
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)esv2751152
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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