A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605541



Internal ID6972471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79627227..79653078hg38UCSC Ensembl
chr5:78923050..78948901hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3825852
hg1925852
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11953034, essv11953033
SamplesHG02090, NA18536
Known GenesPAPD4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605541
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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