A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751361



Internal ID12638227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19961833..22472558hg38UCSC Ensembl
Innerchr15:20167086..22863001hg19UCSC Ensembl
Innerchr15:18427100..20414442hg18UCSC Ensembl
Innerchr15:18427100..20414442hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382510726
hg192695916
hg181987343
hg171987343
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv93e55
Supporting Variantsessv6985751, essv6988938, essv6985752, essv6987247, essv6985750, essv6987246
SamplesSPC_4
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L1, GOLGA6L6, GOLGA8CP, GOLGA8DP, HERC2P3, LOC646214, LOC727924, MIR4509-1, MIR4509-2, MIR4509-3, NBEAP1, NF1P2, OR4M2, OR4N3P, OR4N4, POTEB, POTEB2, REREP3, TUBGCP5
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)esv2751361
Frequency
Sample Size771
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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