A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674380



Internal ID9940485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:10411868..10417698hg38UCSC Ensembl
Outerchr2:10411831..10417748hg38UCSC Ensembl
Innerchr2:10551994..10557824hg19UCSC Ensembl
Outerchr2:10551957..10557874hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg385918
hg195918
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv679e199
Supporting Variantsessv5497507
SamplesNA19066
Known GenesHPCAL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674380
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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