A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34694



Internal ID12644044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19961836..22040734hg38UCSC Ensembl
Innerchr15:20167089..22328685hg19UCSC Ensembl
Innerchr15:18427103..19830049hg18UCSC Ensembl
Innerchr15:18427103..19830049hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382078899
hg192161597
hg181402947
hg171402947
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv92e55
Supporting Variantsessv6979584, essv6986897, essv6979585
SamplesNA18573
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)esv34694
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer