A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14047357



Internal ID4049173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:20748768..20749177hg38UCSC Ensembl
Innerchr11:20748769..20749176hg38UCSC Ensembl
Outerchr11:20748767..20749178hg38UCSC Ensembl
chr11:20770314..20770723hg19UCSC Ensembl
Innerchr11:20770315..20770722hg19UCSC Ensembl
Outerchr11:20770313..20770724hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38410
hg19410
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625559
Supporting Variants
SamplesNA19456
Known GenesNELL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14047357
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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