A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600939



Internal ID6641197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:70689117..70699181hg38UCSC Ensembl
chr4:71554834..71564898hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3810065
hg1910065
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11494444, essv11494446, essv11494443, essv11494442, essv11494445
SamplesNA19704, HG02419, NA18877, HG02888, HG01048
Known GenesUTP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600939
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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