A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670719



Internal ID9936824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:176934706..176937965hg38UCSC Ensembl
Outerchr2:176934669..176938015hg38UCSC Ensembl
Innerchr2:177799434..177802693hg19UCSC Ensembl
Outerchr2:177799397..177802743hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg383347
hg193347
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5455206, essv5923760, essv6491320, essv5596637
SamplesNA18508, NA19190, NA19391, NA19147
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670719
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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