A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597996



Internal ID6638261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:142099805..142311818hg38UCSC Ensembl
chr3:141818647..142030660hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38212014
hg19212014
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11164372, essv11164370, essv11164371
SamplesNA12144, NA20542, NA20807
Known GenesGK5, TFDP2, XRN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597996
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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