A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14307786



Internal ID4309602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:128473744..128475988hg38UCSC Ensembl
Innerchr11:128473780..128475953hg38UCSC Ensembl
Outerchr11:128473709..128476024hg38UCSC Ensembl
chr11:128343639..128345883hg19UCSC Ensembl
Innerchr11:128343675..128345848hg19UCSC Ensembl
Outerchr11:128343604..128345919hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg382245
hg192245
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628046
Supporting Variants
SamplesNA12004
Known GenesETS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14307786
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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