A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618589



Internal ID7005471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:119136418..119142141hg38UCSC Ensembl
Innerchr8:119136418..119142141hg38UCSC Ensembl
Outerchr8:119135918..119142641hg38UCSC Ensembl
chr8:120148657..120154380hg19UCSC Ensembl
Innerchr8:120148657..120154380hg19UCSC Ensembl
Outerchr8:120148157..120154880hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg385724
hg195724
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1413e214
Supporting Variantsessv13302955
SamplesNA20765
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618589
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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