A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14168696



Internal ID3735827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:57245111..57250743hg38UCSC Ensembl
Innerchr11:57245143..57250712hg38UCSC Ensembl
Outerchr11:57245080..57250775hg38UCSC Ensembl
chr11:57012585..57018217hg19UCSC Ensembl
Innerchr11:57012617..57018186hg19UCSC Ensembl
Outerchr11:57012554..57018249hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg385633
hg195633
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626503
Supporting Variants
SamplesHG03369
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14168696
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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