A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751375



Internal ID12984927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19961836..22270557hg38UCSC Ensembl
Innerchr15:20167089..22558508hg19UCSC Ensembl
Innerchr15:18427103..20059872hg18UCSC Ensembl
Innerchr15:18427103..20059872hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382308722
hg192391420
hg181632770
hg171632770
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv96e55
Supporting Variantsessv6990048, essv6984944
SamplesSPC_2
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)esv2751375
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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