A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670264



Internal ID9936369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:72679260..72687527hg38UCSC Ensembl
Outerchr2:72679223..72687577hg38UCSC Ensembl
Innerchr2:72906389..72914656hg19UCSC Ensembl
Outerchr2:72906352..72914706hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg388355
hg198355
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5455415
SamplesHG01378
Known GenesEXOC6B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670264
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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