A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660018



Internal ID9926123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:47767767..47774938hg38UCSC Ensembl
Outerchr19:47767730..47774988hg38UCSC Ensembl
Innerchr19:48271024..48278195hg19UCSC Ensembl
Outerchr19:48270987..48278245hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg387259
hg197259
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv652e199
Supporting Variantsessv5907502, essv6414300, essv6396952, essv5405571, essv5637955
SamplesNA19678, NA20769, NA19719, HG01190, NA19679
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660018
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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