A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14178518



Internal ID5537915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:61496201..61501818hg38UCSC Ensembl
Innerchr11:61496201..61501818hg38UCSC Ensembl
Outerchr11:61495868..61501917hg38UCSC Ensembl
chr11:61263673..61269290hg19UCSC Ensembl
Innerchr11:61263673..61269290hg19UCSC Ensembl
Outerchr11:61263340..61269389hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg385618
hg195618
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626583
Supporting Variants
SamplesNA19000
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14178518
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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