A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1136e214



Internal ID22757030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:130069308..130075272hg38UCSC Ensembl
chr5:129405001..129410965hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg385965
hg195965
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3606770, esv3606772
SamplesNA19054
Known GenesCHSY3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1136e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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