A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988355



Internal ID12626146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19961836..20791879hg38UCSC Ensembl
Innerchr15:20167089..20997208hg19UCSC Ensembl
Innerchr15:18427103..19257253hg18UCSC Ensembl
Innerchr15:18427103..19257253hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38830044
hg19830120
hg18830151
hg17830151
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751310
Supporting Variants
SamplesBEC_353
Known GenesCHEK2P2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988355
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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