A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669900



Internal ID9936005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:120300930..120310003hg38UCSC Ensembl
Outerchr2:120300893..120310053hg38UCSC Ensembl
Innerchr2:121058506..121067579hg19UCSC Ensembl
Outerchr2:121058469..121067629hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg389161
hg199161
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5926458, essv5782967
SamplesHG00106, NA20809
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669900
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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