A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8915854



Internal ID14368375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:146707341..146707371hg38UCSC Ensembl
Innerchr3:146707346..146707364hg38UCSC Ensembl
Outerchr3:146707316..146707394hg38UCSC Ensembl
chr3:146425128..146425158hg19UCSC Ensembl
Innerchr3:146425133..146425151hg19UCSC Ensembl
Outerchr3:146425103..146425181hg19UCSC Ensembl
chr3:147907818..147907848hg18UCSC Ensembl
Innerchr3:147907841..147907823hg18UCSC Ensembl
Outerchr3:147907793..147907871hg18UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg384773
hg194773
hg184773
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3406156
Supporting Variants
SamplesNA18858
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8915854
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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