A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3601257



Internal ID6641514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:86557520..86614379hg38UCSC Ensembl
chr4:87478673..87535532hg19UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg3856860
hg1956860
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11526916
SamplesNA18526
Known GenesPTPN13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3601257
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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