A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14293304



Internal ID4893900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:119038560..119041729hg38UCSC Ensembl
Innerchr11:119038586..119041704hg38UCSC Ensembl
Outerchr11:119038535..119041755hg38UCSC Ensembl
chr11:118909270..118912439hg19UCSC Ensembl
Innerchr11:118909296..118912414hg19UCSC Ensembl
Outerchr11:118909245..118912465hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg383170
hg193170
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627884
Supporting Variants
SamplesNA12414
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14293304
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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