A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980919



Internal ID12635589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20217334..22264652hg38UCSC Ensembl
Innerchr15:20422587..22552603hg19UCSC Ensembl
Innerchr15:18682601..20053967hg18UCSC Ensembl
Innerchr15:18682601..20053967hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382047319
hg192130017
hg181371367
hg171371367
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34874
Supporting Variants
SamplesNA19144
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
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980919
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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