A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978379



Internal ID12635189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19961836..20807195hg38UCSC Ensembl
Innerchr15:20167089..21012524hg19UCSC Ensembl
Innerchr15:18427103..19272564hg18UCSC Ensembl
Innerchr15:18427103..19272564hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38845360
hg19845436
hg18845462
hg17845462
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34622
Supporting Variants
SamplesNA19012
Known GenesCHEK2P2, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978379
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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