A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617490



Internal ID6657685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:66682970..66686735hg38UCSC Ensembl
Innerchr8:66683017..66686689hg38UCSC Ensembl
Outerchr8:66682924..66686782hg38UCSC Ensembl
chr8:67595205..67598970hg19UCSC Ensembl
Innerchr8:67595252..67598924hg19UCSC Ensembl
Outerchr8:67595159..67599017hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg383766
hg193766
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13215948
SamplesNA19657
Known GenesC8orf44-SGK3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617490
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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