A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674831



Internal ID9940936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:164626694..164629892hg38UCSC Ensembl
Outerchr2:164626657..164629942hg38UCSC Ensembl
Innerchr2:165483204..165486402hg19UCSC Ensembl
Outerchr2:165483167..165486452hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg383286
hg193286
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv744e199
Supporting Variantsessv5416161
SamplesHG00692
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674831
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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