A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751156



Internal ID12984708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:93260746..93336385hg38UCSC Ensembl
Innerchr13:93912999..93988638hg19UCSC Ensembl
Innerchr13:92711000..92786639hg18UCSC Ensembl
Innerchr13:92711000..92786639hg17UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3875640
hg1975640
hg1875640
hg1775640
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981801, essv6981802, essv6989263, essv6989519
SamplesBEC_48
Known GenesGPC6
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)esv2751156
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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