A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3601971



Internal ID6642226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:119506352..119615913hg38UCSC Ensembl
chr4:120427507..120537068hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38109562
hg19109562
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11585111
SamplesNA19394
Known GenesPDE5A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3601971
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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