A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678140



Internal ID9597559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:103205584..103207727hg38UCSC Ensembl
Outerchr8:103205427..103207880hg38UCSC Ensembl
Innerchr8:104217812..104219955hg19UCSC Ensembl
Outerchr8:104217655..104220108hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg382454
hg192454
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5575361, essv5720456
SamplesHG00418, HG00427
Known GenesBAALC
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678140
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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