A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13270999



Internal ID1064001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:102818086..102823344hg38UCSC Ensembl
Innerchr8:102818089..102823341hg38UCSC Ensembl
Outerchr8:102818083..102823347hg38UCSC Ensembl
chr8:103830314..103835572hg19UCSC Ensembl
Innerchr8:103830317..103835569hg19UCSC Ensembl
Outerchr8:103830311..103835575hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg385259
hg195259
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618238
Supporting Variants
SamplesHG00689
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13270999
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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