A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983098



Internal ID12628148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19961836..20778925hg38UCSC Ensembl
Innerchr15:20167089..20984254hg19UCSC Ensembl
Innerchr15:18427103..19244303hg18UCSC Ensembl
Innerchr15:18427103..19244303hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38817090
hg19817166
hg18817201
hg17817201
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34227
Supporting Variants
SamplesBEC_543
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)essv6983098
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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