A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617140



Internal ID7004026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:49307587..49308752hg38UCSC Ensembl
Innerchr8:49307588..49308752hg38UCSC Ensembl
Outerchr8:49307587..49308753hg38UCSC Ensembl
chr8:50220146..50221311hg19UCSC Ensembl
Innerchr8:50220147..50221311hg19UCSC Ensembl
Outerchr8:50220146..50221312hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg381166
hg191166
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13195396, essv13195395, essv13195397, essv13195394
SamplesNA19684, HG00113, HG00740, HG00125
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617140
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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