A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14293354



Internal ID1136278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:119433997..119435326hg38UCSC Ensembl
Innerchr11:119434022..119435302hg38UCSC Ensembl
Outerchr11:119433973..119435351hg38UCSC Ensembl
chr11:119304707..119306036hg19UCSC Ensembl
Innerchr11:119304732..119306012hg19UCSC Ensembl
Outerchr11:119304683..119306061hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg381330
hg191330
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627891
Supporting Variants
SamplesHG00879
Known GenesUSP2-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14293354
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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