A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606479



Internal ID6993415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:119180749..119256169hg38UCSC Ensembl
chr5:118516444..118591864hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3875421
hg1975421
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12033631
SamplesNA19759
Known GenesDMXL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606479
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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