A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1387e214



Internal ID18981562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:19662777..19686192hg38UCSC Ensembl
chr8:19520288..19543703hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3823416
hg1923416
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3616544, esv3616546
SamplesNA19146, HG03660, NA19332, NA19079
Known GenesCSGALNACT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1387e214
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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