A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10954080



Internal ID418404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:25485431..25487444hg38UCSC Ensembl
Innerchr3:25485448..25487427hg38UCSC Ensembl
Outerchr3:25485414..25487461hg38UCSC Ensembl
chr3:25526922..25528935hg19UCSC Ensembl
Innerchr3:25526939..25528918hg19UCSC Ensembl
Outerchr3:25526905..25528952hg19UCSC Ensembl
Cytoband3p24.2
Allele length
AssemblyAllele length
hg382014
hg192014
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595607
Supporting Variants
SamplesHG00126
Known GenesRARB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10954080
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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