A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668513



Internal ID9587932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:13898753..13902463hg38UCSC Ensembl
chr19:14009566..14013276hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg383711
hg193711
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6563494
SamplesHG00513
Known GenesC19orf57
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668513
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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