A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14116422



Internal ID4118238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:43929345..43946212hg38UCSC Ensembl
Innerchr11:43929495..43946062hg38UCSC Ensembl
Outerchr11:43929195..43946362hg38UCSC Ensembl
chr11:43950895..43967762hg19UCSC Ensembl
Innerchr11:43951045..43967612hg19UCSC Ensembl
Outerchr11:43950745..43967912hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3816868
hg1916868
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626156
Supporting Variants
SamplesHG03950
Known GenesC11orf96
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14116422
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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