A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14317691



Internal ID4319510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:132620030..132630510hg38UCSC Ensembl
Innerchr11:132620530..132630010hg38UCSC Ensembl
Outerchr11:132619030..132631510hg38UCSC Ensembl
chr11:132489925..132500405hg19UCSC Ensembl
Innerchr11:132490425..132499905hg19UCSC Ensembl
Outerchr11:132488925..132501405hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3810481
hg1910481
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628127
Supporting Variants
SamplesNA21144
Known GenesOPCML
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14317691
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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