A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677747



Internal ID9943852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:39228180..39228795hg38UCSC Ensembl
Outerchr19:39228023..39228948hg38UCSC Ensembl
Innerchr19:39718820..39719435hg19UCSC Ensembl
Outerchr19:39718663..39719588hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38926
hg19926
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6481805, essv5533032, essv6159525
SamplesNA19002, HG00556, HG00500
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677747
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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