A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672890



Internal ID9938995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:55065951..55073235hg38UCSC Ensembl
Outerchr19:55065914..55073285hg38UCSC Ensembl
Innerchr19:55577319..55584603hg19UCSC Ensembl
Outerchr19:55577282..55584653hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg387372
hg197372
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5811276
SamplesNA20804
Known GenesRDH13
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672890
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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