A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14118993



Internal ID4120809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:46466252..46478075hg38UCSC Ensembl
Innerchr11:46466752..46477575hg38UCSC Ensembl
Outerchr11:46465252..46479075hg38UCSC Ensembl
chr11:46487802..46499625hg19UCSC Ensembl
Innerchr11:46488302..46499125hg19UCSC Ensembl
Outerchr11:46486802..46500625hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3811824
hg1911824
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626187
Supporting Variants
SamplesHG03123
Known GenesAMBRA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14118993
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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