A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675615



Internal ID9941720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:52259553..52268277hg38UCSC Ensembl
Outerchr19:52259516..52268327hg38UCSC Ensembl
Innerchr19:52762806..52771530hg19UCSC Ensembl
Outerchr19:52762769..52771580hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg388812
hg198812
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6247107, essv5452370
SamplesNA19332, NA19236
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675615
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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