A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1109e214



Internal ID22757003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:81480231..81551475hg38UCSC Ensembl
chr5:80776050..80847294hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3871245
hg1971245
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3605596, esv3605598
SamplesNA11918
Known GenesSSBP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1109e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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