A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673607



Internal ID9939712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:58461811..58464057hg38UCSC Ensembl
Outerchr2:58461654..58464210hg38UCSC Ensembl
Innerchr2:58688946..58691192hg19UCSC Ensembl
Outerchr2:58688789..58691345hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg382557
hg192557
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5418736
SamplesHG00608
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673607
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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