A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13358378



Internal ID3222337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:141120386..141145402hg38UCSC Ensembl
Innerchr8:141120386..141145402hg38UCSC Ensembl
Outerchr8:141119886..141145902hg38UCSC Ensembl
chr8:142130485..142155501hg19UCSC Ensembl
Innerchr8:142130485..142155501hg19UCSC Ensembl
Outerchr8:142129985..142156001hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3825017
hg1925017
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619051
Supporting Variants
SamplesHG02836
Known GenesDENND3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13358378
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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