A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14179384



Internal ID2867115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:62371957..62374720hg38UCSC Ensembl
Innerchr11:62371969..62374708hg38UCSC Ensembl
Outerchr11:62371945..62374732hg38UCSC Ensembl
chr11:62139429..62142192hg19UCSC Ensembl
Innerchr11:62139441..62142180hg19UCSC Ensembl
Outerchr11:62139417..62142204hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg382764
hg192764
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626604
Supporting Variants
SamplesHG02545
Known GenesASRGL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14179384
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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