A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693870



Internal ID14662361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:16177241..16178339hg38UCSC Ensembl
Innerchr3:16177339..16178241hg38UCSC Ensembl
Outerchr3:16176241..16179339hg38UCSC Ensembl
chr3:16218748..16219846hg19UCSC Ensembl
Innerchr3:16218846..16219748hg19UCSC Ensembl
Outerchr3:16217748..16220846hg19UCSC Ensembl
chr3:16193752..16194850hg18UCSC Ensembl
Innerchr3:16194752..16193850hg18UCSC Ensembl
Outerchr3:16192752..16195850hg18UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3324120
Supporting Variants
SamplesNA19238
Known GenesGALNT15
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693870
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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