A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3601260



Internal ID6641517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:86625025..86702001hg38UCSC Ensembl
chr4:87546178..87623154hg19UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg3876977
hg1976977
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11526919
SamplesNA20534
Known GenesPTPN13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3601260
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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