A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693807



Internal ID13344016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:111555215..111556213hg38UCSC Ensembl
Innerchr3:111555214..111556214hg38UCSC Ensembl
Outerchr3:111554215..111557213hg38UCSC Ensembl
chr3:111274062..111275060hg19UCSC Ensembl
Innerchr3:111274061..111275061hg19UCSC Ensembl
Outerchr3:111273062..111276060hg19UCSC Ensembl
chr3:112756752..112757750hg18UCSC Ensembl
Innerchr3:112757751..112756751hg18UCSC Ensembl
Outerchr3:112755752..112758750hg18UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3366991
Supporting Variants
SamplesNA12891
Known GenesCD96
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693807
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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