A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1125e214



Internal ID22757019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:112102540..112148056hg38UCSC Ensembl
chr5:111438237..111483753hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg3845517
hg1945517
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3606288, esv3606289
SamplesHG02262, HG01187, NA18534
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1125e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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