A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652246



Internal ID14755789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:101163955..101164457hg38UCSC Ensembl
Innerchr4:101163955..101164457hg38UCSC Ensembl
Outerchr4:101163642..101164885hg38UCSC Ensembl
chr4:102085112..102085614hg19UCSC Ensembl
Innerchr4:102085112..102085614hg19UCSC Ensembl
Outerchr4:102084799..102086042hg19UCSC Ensembl
chr4:102304135..102304637hg18UCSC Ensembl
Innerchr4:102304135..102304637hg18UCSC Ensembl
Outerchr4:102303822..102305065hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg38503
hg19503
hg18503
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3449818
Supporting Variants
SamplesNA19240
Known GenesPPP3CA
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652246
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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