A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751462



Internal ID12638328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19981133..22472558hg38UCSC Ensembl
Innerchr15:20186386..22791922hg19UCSC Ensembl
Innerchr15:18446400..20343286hg18UCSC Ensembl
Innerchr15:18446400..20343286hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382491426
hg192605537
hg181896887
hg171896887
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv93e55
Supporting Variantsessv6982508, essv6986195
SamplesBEC_460
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
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751462
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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