A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14119000



Internal ID4120816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:46689727..46693199hg38UCSC Ensembl
Innerchr11:46689762..46693165hg38UCSC Ensembl
Outerchr11:46689693..46693234hg38UCSC Ensembl
chr11:46711277..46714749hg19UCSC Ensembl
Innerchr11:46711312..46714715hg19UCSC Ensembl
Outerchr11:46711243..46714784hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg383473
hg193473
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626192
Supporting Variants
SamplesHG02271
Known GenesARHGAP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14119000
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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