A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984150



Internal ID12631079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19961836..20662464hg38UCSC Ensembl
Innerchr15:20167089..20867793hg19UCSC Ensembl
Innerchr15:18427103..19127807hg18UCSC Ensembl
Innerchr15:18427103..19127807hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38700629
hg19700705
hg18700705
hg17700705
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751314
Supporting Variants
SamplesBEC_789
Known GenesCHEK2P2, GOLGA6L6, GOLGA8CP, HERC2P3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984150
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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