A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv666e214



Internal ID20122089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48604616..48609671hg38UCSC Ensembl
chr19:49107873..49112928hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg385056
hg195056
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3644593, esv3644592
SamplesHG01344
Known GenesFAM83E, SPACA4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv666e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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