A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607738



Internal ID6647977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179121885..179136585hg38UCSC Ensembl
chr5:178548886..178563586hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3814701
hg1914701
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12150329, essv12150328
SamplesNA19143, HG01985
Known GenesADAMTS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607738
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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