A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12653370



Internal ID621785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:170223934..170233337hg38UCSC Ensembl
Innerchr6:170223949..170233322hg38UCSC Ensembl
Outerchr6:170223919..170233352hg38UCSC Ensembl
chr6:170533724..170543127hg19UCSC Ensembl
Innerchr6:170533739..170543112hg19UCSC Ensembl
Outerchr6:170533709..170543142hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg389404
hg199404
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611731
Supporting Variants
SamplesHG00272
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12653370
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer