A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8916504



Internal ID14028349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:169977210..169977238hg38UCSC Ensembl
Innerchr3:169977222..169977224hg38UCSC Ensembl
Outerchr3:169977196..169977250hg38UCSC Ensembl
chr3:169694998..169695026hg19UCSC Ensembl
Innerchr3:169695010..169695012hg19UCSC Ensembl
Outerchr3:169694984..169695038hg19UCSC Ensembl
chr3:171177692..171177720hg18UCSC Ensembl
Innerchr3:171177704..171177706hg18UCSC Ensembl
Outerchr3:171177678..171177732hg18UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg38244
hg19244
hg18244
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3338146
Supporting Variants
SamplesNA18861
Known GenesSEC62
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8916504
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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