A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1066e214



Internal ID20122489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1227977..1245183hg38UCSC Ensembl
chr5:1228092..1245298hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3817207
hg1917207
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3603802, esv3603800
SamplesHG02291
Known GenesSLC6A18
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1066e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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