A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790501



Internal ID19175791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16539448..16801041hg38UCSC Ensembl
Innerchr22:17020338..17281931hg19UCSC Ensembl
Innerchr22:15400338..15661931hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38261594
hg19261594
hg18261594
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893423
Supporting Variants
Samples
Known GenesANKRD62P1-PARP4P3, CCT8L2, TPTEP1, XKR3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=54
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790501
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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