A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751365



Internal ID12984917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19961836..20994922hg38UCSC Ensembl
Innerchr15:20167089..21200251hg19UCSC Ensembl
Innerchr15:18427103..19464910hg18UCSC Ensembl
Innerchr15:18427103..19464910hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381033087
hg191033163
hg181037808
hg171037808
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv91e55
Supporting Variantsessv6981044, essv6985459
SamplesBEC_343
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, 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)esv2751365
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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