A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751362



Internal ID12638228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19961833..22472558hg38UCSC Ensembl
Innerchr15:20167086..22869764hg19UCSC Ensembl
Innerchr15:18427100..20421205hg18UCSC Ensembl
Innerchr15:18427100..20421205hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382510726
hg192702679
hg181994106
hg171994106
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv93e55
Supporting Variantsessv6981733, essv6985659, essv6981735, essv6988444, essv6981734
SamplesBEC_330
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)esv2751362
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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