A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693869



Internal ID14692901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:16177141..16178639hg38UCSC Ensembl
Innerchr3:16177639..16178141hg38UCSC Ensembl
Outerchr3:16176141..16179639hg38UCSC Ensembl
chr3:16218648..16220146hg19UCSC Ensembl
Innerchr3:16219146..16219648hg19UCSC Ensembl
Outerchr3:16217648..16221146hg19UCSC Ensembl
chr3:16193652..16195150hg18UCSC Ensembl
Innerchr3:16194652..16194150hg18UCSC Ensembl
Outerchr3:16192652..16196150hg18UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3415457
Supporting Variants
SamplesNA19239
Known GenesGALNT15
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693869
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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