A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616998



Internal ID7003884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42007823..42011706hg38UCSC Ensembl
Innerchr8:42007823..42011706hg38UCSC Ensembl
Outerchr8:42007571..42011971hg38UCSC Ensembl
chr8:41865341..41869224hg19UCSC Ensembl
Innerchr8:41865341..41869224hg19UCSC Ensembl
Outerchr8:41865089..41869489hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg383884
hg193884
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13182327, essv13182328
SamplesHG02493, HG01072
Known GenesKAT6A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616998
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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