A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676254



Internal ID9942359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:2502833..2507739hg38UCSC Ensembl
Outerchr19:2502796..2507789hg38UCSC Ensembl
Innerchr19:2502831..2507737hg19UCSC Ensembl
Outerchr19:2502794..2507787hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg384994
hg194994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6293864
SamplesNA18595
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676254
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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