A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1431e214



Internal ID22757325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:252465..547052hg38UCSC Ensembl
chr9:252465..547052hg19UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38294588
hg19294588
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3619179, esv3619184
SamplesHG01602, HG01806, HG01686, HG03577, HG03803, NA20819, NA19917, HG04152
Known GenesDOCK8, KANK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1431e214
Frequency
Sample Size2504
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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