A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751374



Internal ID12984926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19961836..22216247hg38UCSC Ensembl
Innerchr15:20167089..22504198hg19UCSC Ensembl
Innerchr15:18427103..20005562hg18UCSC Ensembl
Innerchr15:18427103..20005562hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382254412
hg192337110
hg181578460
hg171578460
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv96e55
Supporting Variantsessv6981758, essv6981759
SamplesBEC_335
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, OR4M2, OR4N3P, OR4N4, 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)esv2751374
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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