A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617339



Internal ID7004225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:58520974..58521481hg38UCSC Ensembl
Innerchr8:58520974..58521481hg38UCSC Ensembl
Outerchr8:58520818..58521614hg38UCSC Ensembl
chr8:59433533..59434040hg19UCSC Ensembl
Innerchr8:59433533..59434040hg19UCSC Ensembl
Outerchr8:59433377..59434173hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38508
hg19508
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13206213, essv13206215, essv13206214
SamplesHG03378, HG01488, NA19901
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617339
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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