A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751439



Internal ID12638305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19961836..22300068hg38UCSC Ensembl
Innerchr15:20167089..22588019hg19UCSC Ensembl
Innerchr15:18427103..20089383hg18UCSC Ensembl
Innerchr15:18427103..20089383hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382338233
hg192420931
hg181662281
hg171662281
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv92e55
Supporting Variantsessv6979520, essv6979521, essv6986877
SamplesNA18564
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, OR4M2, OR4N3P, OR4N4, POTEB, POTEB2, REREP3
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)esv2751439
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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