A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14320176



Internal ID5286862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:134133993..134138142hg38UCSC Ensembl
Innerchr11:134134000..134138136hg38UCSC Ensembl
Outerchr11:134133987..134138149hg38UCSC Ensembl
chr11:134003888..134008037hg19UCSC Ensembl
Innerchr11:134003895..134008031hg19UCSC Ensembl
Outerchr11:134003882..134008044hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg384150
hg194150
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628162
Supporting Variants
SamplesNA18740
Known GenesJAM3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14320176
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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