A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669207



Internal ID9935312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:127459002..127460485hg38UCSC Ensembl
Outerchr2:127458965..127460535hg38UCSC Ensembl
Innerchr2:128216578..128218061hg19UCSC Ensembl
Outerchr2:128216541..128218111hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg381571
hg191571
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5989800
SamplesNA12750
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669207
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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