A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751293



Internal ID12984845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19961833..20937641hg38UCSC Ensembl
Innerchr15:20167086..21142970hg19UCSC Ensembl
Innerchr15:18427100..19407629hg18UCSC Ensembl
Innerchr15:18427100..19407629hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38975809
hg19975885
hg18980530
hg17980530
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv91e55
Supporting Variantsessv6988784, essv6987547
SamplesBEC_687
Known GenesCHEK2P2, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1, NF1P2, POTEB, POTEB2
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)esv2751293
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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