A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv819e214



Internal ID22756713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:16590819..16825497hg38UCSC Ensembl
chr22:17071709..17306387hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38234679
hg19234679
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3647194, esv3647193
SamplesHG01438, NA12273, NA19651, HG00113, HG02728, HG00740, HG01679, HG00099, NA19652, HG03899, HG03733, HG00280, HG02006
Known GenesANKRD62P1-PARP4P3, CCT8L2, TPTEP1, XKR3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv819e214
Frequency
Sample Size2504
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer