A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671105



Internal ID9937210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:70157367..70159343hg38UCSC Ensembl
Outerchr2:70157210..70159496hg38UCSC Ensembl
Innerchr2:70384499..70386475hg19UCSC Ensembl
Outerchr2:70384342..70386628hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg382287
hg192287
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5617131
SamplesHG01197
Known GenesC2orf42
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671105
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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