A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3391060



Internal ID15238027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:47200158..47203156hg38UCSC Ensembl
Innerchr3:47201158..47202156hg38UCSC Ensembl
Outerchr3:47199158..47204156hg38UCSC Ensembl
chr3:47241648..47244646hg19UCSC Ensembl
Innerchr3:47242648..47243646hg19UCSC Ensembl
Outerchr3:47240648..47245646hg19UCSC Ensembl
chr3:47216652..47219650hg18UCSC Ensembl
Innerchr3:47217652..47218650hg18UCSC Ensembl
Outerchr3:47215652..47220650hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg382999
hg192999
hg182999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694082
SamplesNA12891
Known GenesKIF9-AS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3391060
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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