A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693857



Internal ID15039433
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 StatusS
Merged Variantsesv3336617
Supporting Variants
SamplesNA19239
Known GenesACPL2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693857
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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