A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751142



Internal ID12638008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:31152041..31332004hg38UCSC Ensembl
Innerchr13:31726178..31906141hg19UCSC Ensembl
Innerchr13:30624178..30804141hg18UCSC Ensembl
Innerchr13:30624178..30804141hg17UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38179964
hg19179964
hg18179964
hg17179964
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6987538, essv6984238, essv6984237
SamplesBEC_817
Known GenesB3GALTL, HSPH1
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)esv2751142
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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