A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34993



Internal ID12991029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20217334..22300068hg38UCSC Ensembl
Innerchr15:20422587..22588019hg19UCSC Ensembl
Innerchr15:18682601..20089383hg18UCSC Ensembl
Innerchr15:18682601..20089383hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382082735
hg192165433
hg181406783
hg171406783
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv96e55
Supporting Variantsessv6981835, essv6989524
SamplesBEC_492
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
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34993
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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