A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14055482



Internal ID6360486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:23428809..23441481hg38UCSC Ensembl
Innerchr11:23428824..23441467hg38UCSC Ensembl
Outerchr11:23428795..23441496hg38UCSC Ensembl
chr11:23450355..23463027hg19UCSC Ensembl
Innerchr11:23450370..23463013hg19UCSC Ensembl
Outerchr11:23450341..23463042hg19UCSC Ensembl
Cytoband11p14.3
Allele length
AssemblyAllele length
hg3812673
hg1912673
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625644
Supporting Variants
SamplesNA20291
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14055482
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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