A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659694



Internal ID9579113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:11302997..11304676hg38UCSC Ensembl
Outerchr19:11302840..11304830hg38UCSC Ensembl
Innerchr19:11413673..11415352hg19UCSC Ensembl
Outerchr19:11413516..11415506hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381991
hg191991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5416635, essv6132698, essv5503269, essv6015887, essv6552014, essv6331922, essv5770032, essv5495978, essv5838148, essv5992764, essv6107054, essv5511126, essv6543868, essv5684343
SamplesNA19394, NA19399, NA19393, NA19446, NA18868, NA19371, NA19172, NA19707, NA19455, NA19452, HG01204, NA19835, HG01342, NA19818
Known GenesTSPAN16
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659694
Frequency
Sample Size1151
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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