A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751372



Internal ID12984924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19961836..22042495hg38UCSC Ensembl
Innerchr15:20167089..22330446hg19UCSC Ensembl
Innerchr15:18427103..19831810hg18UCSC Ensembl
Innerchr15:18427103..19831810hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382080660
hg192163358
hg181404708
hg171404708
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv96e55
Supporting Variantsessv6983557, essv6983558
SamplesBEC_668
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)esv2751372
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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