A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596167



Internal ID6636440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:53098397..53099785hg38UCSC Ensembl
Innerchr3:53098415..53099768hg38UCSC Ensembl
Outerchr3:53098380..53099803hg38UCSC Ensembl
chr3:53132413..53133801hg19UCSC Ensembl
Innerchr3:53132431..53133784hg19UCSC Ensembl
Outerchr3:53132396..53133819hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg381389
hg191389
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11014137, essv11014136, essv11014138, essv11014139
SamplesHG03969, NA20905, HG03687, HG04035
Known GenesRFT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596167
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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