A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5923760



Internal ID9578118
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 Flag1
Merged StatusS
Merged Variantsesv2670719
Supporting Variants
SamplesNA19147
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5923760
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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