A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13351961



Internal ID5438958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:139954391..139967986hg38UCSC Ensembl
Innerchr8:139954435..139967943hg38UCSC Ensembl
Outerchr8:139954348..139968030hg38UCSC Ensembl
chr8:140966689..140978191hg19UCSC Ensembl
Innerchr8:140966733..140978148hg19UCSC Ensembl
Outerchr8:140966646..140978235hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3813596
hg1911503
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619021
Supporting Variants
SamplesNA18960
Known GenesTRAPPC9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13351961
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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