A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13369031



Internal ID3370847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144492556..144495696hg38UCSC Ensembl
Innerchr8:144492561..144495691hg38UCSC Ensembl
Outerchr8:144492551..144495701hg38UCSC Ensembl
chr8:145717939..145721079hg19UCSC Ensembl
Innerchr8:145717944..145721074hg19UCSC Ensembl
Outerchr8:145717934..145721084hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg383141
hg193141
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619128
Supporting Variants
SamplesNA12342
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13369031
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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