A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669034



Internal ID9935139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:20739788..20743267hg38UCSC Ensembl
Outerchr8:20739631..20743420hg38UCSC Ensembl
Innerchr8:20597299..20600778hg19UCSC Ensembl
Outerchr8:20597142..20600931hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg383790
hg193790
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5604657, essv6097382, essv6559395, essv5663931
SamplesHG01465, NA12348, HG00313, NA20803
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669034
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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