A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663248



Internal ID9929353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:56310450..56313947hg38UCSC Ensembl
Outerchr2:56310293..56314100hg38UCSC Ensembl
Innerchr2:56537585..56541082hg19UCSC Ensembl
Outerchr2:56537428..56541235hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg383808
hg193808
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5730942
SamplesNA20516
Known GenesCCDC85A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663248
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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