A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694099



Internal ID15079272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52343196..52347294hg38UCSC Ensembl
Innerchr3:52344196..52346294hg38UCSC Ensembl
Outerchr3:52342196..52348294hg38UCSC Ensembl
chr3:52377212..52381310hg19UCSC Ensembl
Innerchr3:52378212..52380310hg19UCSC Ensembl
Outerchr3:52376212..52382310hg19UCSC Ensembl
chr3:52352252..52356350hg18UCSC Ensembl
Innerchr3:52353252..52355350hg18UCSC Ensembl
Outerchr3:52351252..52357350hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg384099
hg194099
hg184099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3428292
Supporting Variants
SamplesNA19240
Known GenesDNAH1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694099
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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