A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3619119



Internal ID7005999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143874609..143883580hg38UCSC Ensembl
Innerchr8:143874631..143883559hg38UCSC Ensembl
Outerchr8:143874588..143883602hg38UCSC Ensembl
chr8:144948777..144957748hg19UCSC Ensembl
Innerchr8:144948799..144957727hg19UCSC Ensembl
Outerchr8:144948756..144957770hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg388972
hg198972
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13367752
SamplesHG00457
Known GenesEPPK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3619119
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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