A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604231



Internal ID6991261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:18594968..18675905hg38UCSC Ensembl
chr5:18595077..18676014hg19UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg3880938
hg1980938
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11826873, essv11826874, essv11826872, essv11826875, essv11826871
SamplesNA19028, NA20298, NA19374, NA19317, HG03442
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604231
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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