A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34197



Internal ID12643550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19961833..22288239hg38UCSC Ensembl
Innerchr15:20167086..22576190hg19UCSC Ensembl
Innerchr15:18427100..20077554hg18UCSC Ensembl
Innerchr15:18427100..20077554hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382326407
hg192409105
hg181650455
hg171650455
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv92e55
Supporting Variantsessv6990509, essv6980647, essv6980648, essv6980649
SamplesNA19240
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)esv34197
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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