A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674852



Internal ID9940957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:207362316..207367116hg38UCSC Ensembl
Outerchr2:207362279..207367166hg38UCSC Ensembl
Innerchr2:208227040..208231840hg19UCSC Ensembl
Outerchr2:208227003..208231890hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg384888
hg194888
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5806358
SamplesNA12341
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674852
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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