A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656984



Internal ID9576403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:33287908..33291632hg38UCSC Ensembl
Outerchr2:33287751..33291785hg38UCSC Ensembl
Innerchr2:33512975..33516699hg19UCSC Ensembl
Outerchr2:33512818..33516852hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg384035
hg194035
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6230616
SamplesNA19078
Known GenesLTBP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656984
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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