A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1139e214



Internal ID22757033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:135417917..135422644hg38UCSC Ensembl
chr5:134753607..134758334hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg384728
hg194728
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3606860, esv3606862
SamplesNA20351, HG03127, NA19030
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1139e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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