A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893423



Internal ID19184243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16539448..16801041hg38UCSC Ensembl
Outerchr22:16539448..16801041hg38UCSC Ensembl
Innerchr22:17020338..17281931hg19UCSC Ensembl
Outerchr22:17020338..17281931hg19UCSC Ensembl
Innerchr22:15400338..15661931hg18UCSC Ensembl
Outerchr22:15400338..15661931hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38261594
hg19261594
hg18261594
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25790501
Samples
Known GenesANKRD62P1-PARP4P3, CCT8L2, TPTEP1, XKR3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893423
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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