A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14308939



Internal ID647278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:128950978..128951778hg38UCSC Ensembl
Innerchr11:128950996..128951761hg38UCSC Ensembl
Outerchr11:128950961..128951796hg38UCSC Ensembl
chr11:128820873..128821673hg19UCSC Ensembl
Innerchr11:128820891..128821656hg19UCSC Ensembl
Outerchr11:128820856..128821691hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628052
Supporting Variants
SamplesHG00284
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14308939
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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