A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668573



Internal ID9934678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:104929115..104933600hg38UCSC Ensembl
Outerchr2:104929078..104933650hg38UCSC Ensembl
Innerchr2:105545573..105550058hg19UCSC Ensembl
Outerchr2:105545536..105550108hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg384573
hg194573
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5690502, essv5860267, essv5526377
SamplesHG01052, HG01390, NA19834
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668573
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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