A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14320172



Internal ID6502862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:134108317..134113467hg38UCSC Ensembl
Innerchr11:134108317..134113467hg38UCSC Ensembl
Outerchr11:134107817..134113967hg38UCSC Ensembl
chr11:133978212..133983362hg19UCSC Ensembl
Innerchr11:133978212..133983362hg19UCSC Ensembl
Outerchr11:133977712..133983862hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg385151
hg195151
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628161
Supporting Variants
SamplesNA20534
Known GenesJAM3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14320172
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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