A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34453



Internal ID12643806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19981155..22032106hg38UCSC Ensembl
Innerchr15:20186408..22320057hg19UCSC Ensembl
Innerchr15:18446422..19821421hg18UCSC Ensembl
Innerchr15:18446422..19821421hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382050952
hg192133650
hg181375000
hg171375000
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv92e55
Supporting Variantsessv6979686, essv6979685
SamplesNA18605
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, POTEB, POTEB2
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)esv34453
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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