A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751029



Internal ID12984581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:54555644..54926183hg38UCSC Ensembl
Innerchr11:51192824..51563636hg19UCSC Ensembl
Innerchr11:51049400..51420212hg18UCSC Ensembl
Innerchr11:51049400..51420212hg17UCSC Ensembl
Cytoband11p11.11
Allele length
AssemblyAllele length
hg38370540
hg19370813
hg18370813
hg17370813
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6983900, essv6983902, essv6983901
SamplesBEC_730
Known GenesOR4A5, OR4C46
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751029
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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