A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678769



Internal ID9598188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:1002477..1004527hg38UCSC Ensembl
chr3:1044161..1046211hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg382051
hg192051
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5700218, essv5863657, essv6426535, essv6166868, essv6128330
SamplesNA19107, NA18907, NA18909, NA18501, NA18522
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678769
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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