A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422195



Internal ID3031912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:67234322..67626901hg19UCSC Ensembl
Innerchr11:66990898..67383477hg18UCSC Ensembl
Innerchr11:66990898..67383477hg17UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Duplication
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv5161376
SamplesND01659
Known GenesACY3, AIP, ALDH3B2, CABP2, CDK2AP2, DOC2GP, FAM86C2P, GSTP1, NDUFV1, NUDT8, PITPNM1, TBX10, TMEM134
Method
AnalysisRegion identical to calls - DGVa curated
PlatformIllumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422195
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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