A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14293353



Internal ID1823807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:119252699..119253481hg38UCSC Ensembl
Innerchr11:119252749..119253431hg38UCSC Ensembl
Outerchr11:119252649..119253531hg38UCSC Ensembl
chr11:119123409..119124191hg19UCSC Ensembl
Innerchr11:119123459..119124141hg19UCSC Ensembl
Outerchr11:119123359..119124241hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38783
hg19783
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627890
Supporting Variants
SamplesHG01697
Known GenesCBL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14293353
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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