A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3627216



Internal ID7014046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:90674566..90682328hg38UCSC Ensembl
Innerchr11:90674617..90682277hg38UCSC Ensembl
Outerchr11:90674515..90682379hg38UCSC Ensembl
chr11:90407734..90415496hg19UCSC Ensembl
Innerchr11:90407785..90415445hg19UCSC Ensembl
Outerchr11:90407683..90415547hg19UCSC Ensembl
Cytoband11q14.3
Allele length
AssemblyAllele length
hg387763
hg197763
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14232112, essv14232114, essv14232115, essv14232113
SamplesHG00452, NA19076, NA18539, NA18946
Known GenesDISC1FP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3627216
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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