A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3392024



Internal ID14892303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:111552609..111552628hg38UCSC Ensembl
Innerchr3:111552605..111552632hg38UCSC Ensembl
Outerchr3:111552586..111552651hg38UCSC Ensembl
chr3:111271456..111271475hg19UCSC Ensembl
Innerchr3:111271452..111271479hg19UCSC Ensembl
Outerchr3:111271433..111271498hg19UCSC Ensembl
chr3:112754146..112754165hg18UCSC Ensembl
Innerchr3:112754169..112754142hg18UCSC Ensembl
Outerchr3:112754123..112754188hg18UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9611136
SamplesNA19143
Known GenesCD96
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3392024
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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