A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606069



Internal ID6993005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:103390867..103544290hg38UCSC Ensembl
chr5:102726568..102879991hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38153424
hg19153424
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12002353, essv12002352
SamplesNA19025, NA20289
Known GenesLOC102467212
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606069
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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