A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6254094



Internal ID9073188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:131741518..131781806hg38UCSC Ensembl
Outerchr3:131741481..131781856hg38UCSC Ensembl
Innerchr3:131460362..131500650hg19UCSC Ensembl
Outerchr3:131460325..131500700hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3840376
hg1940376
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2677391
Supporting Variants
SamplesHG01047
Known GenesCPNE4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6254094
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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