A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751470



Internal ID12638336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19981155..22300068hg38UCSC Ensembl
Innerchr15:20186408..22588019hg19UCSC Ensembl
Innerchr15:18446422..20089383hg18UCSC Ensembl
Innerchr15:18446422..20089383hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382318914
hg192401612
hg181642962
hg171642962
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv92e55
Supporting Variantsessv6978053, essv6978052, essv6986531
SamplesNA10861
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)esv2751470
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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