A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1147e214



Internal ID22757041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149919158..149924176hg38UCSC Ensembl
chr5:149298721..149303739hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg385019
hg195019
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3607155, esv3607154
SamplesHG00113
Known GenesPDE6A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1147e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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