A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751145



Internal ID12638011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:43080522..43250305hg38UCSC Ensembl
Innerchr13:43654658..43824441hg19UCSC Ensembl
Innerchr13:42552658..42722441hg18UCSC Ensembl
Innerchr13:42552658..42722441hg17UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38169784
hg19169784
hg18169784
hg17169784
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6984532, essv6987612, essv6984530, essv6987613, essv6984531
SamplesBEC_715
Known GenesDNAJC15, ENOX1
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)esv2751145
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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