A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669011



Internal ID9588430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:29970667..29973218hg38UCSC Ensembl
Outerchr19:29970630..29973268hg38UCSC Ensembl
Innerchr19:30461574..30464125hg19UCSC Ensembl
Outerchr19:30461537..30464175hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg382639
hg192639
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5768825
SamplesNA06984
Known GenesURI1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669011
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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