A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3336617



Internal ID15183605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:141274220..141275318hg38UCSC Ensembl
Innerchr3:141274318..141275220hg38UCSC Ensembl
Outerchr3:141273220..141276318hg38UCSC Ensembl
chr3:140993062..140994160hg19UCSC Ensembl
Innerchr3:140993160..140994062hg19UCSC Ensembl
Outerchr3:140992062..140995160hg19UCSC Ensembl
chr3:142475752..142476850hg18UCSC Ensembl
Innerchr3:142476752..142475850hg18UCSC Ensembl
Outerchr3:142474752..142477850hg18UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693857
SamplesNA19239
Known GenesACPL2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3336617
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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