A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628046



Internal ID6668190
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14307786, essv14307787
SamplesNA12004, NA18977
Known GenesETS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628046
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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