A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34646



Internal ID12990682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:81742510..82081761hg38UCSC Ensembl
Innerchr11:81453552..81792803hg19UCSC Ensembl
Innerchr11:81131200..81470451hg18UCSC Ensembl
Innerchr11:81131200..81470451hg17UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38339252
hg19339252
hg18339252
hg17339252
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv53e55
Supporting Variantsessv6978881, essv6988065, essv6978883, essv6989051, essv6978882
SamplesNA12753
Known GenesMIR4300
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)esv34646
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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