A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34496



Internal ID12990533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19961836..22051369hg38UCSC Ensembl
Innerchr15:20167089..22339320hg19UCSC Ensembl
Innerchr15:18427103..19840684hg18UCSC Ensembl
Innerchr15:18427103..19840684hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382089534
hg192172232
hg181413582
hg171413582
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv96e55
Supporting Variantsessv6978232, essv6987352
SamplesNA18990
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)esv34496
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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