A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751146



Internal ID12638012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:43168728..43216777hg38UCSC Ensembl
Innerchr13:43742864..43790913hg19UCSC Ensembl
Innerchr13:42640864..42688913hg18UCSC Ensembl
Innerchr13:42640864..42688913hg17UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3848050
hg1948050
hg1848050
hg1748050
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981117, essv6981115, essv6985481, essv6981116
SamplesBEC_354
Known GenesENOX1
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)esv2751146
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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