A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789008



Internal ID19160431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25290073..25447917hg38UCSC Ensembl
Innerchr22:25686040..25843884hg19UCSC Ensembl
Innerchr22:24016040..24173884hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38157845
hg19157845
hg18157845
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893466
Supporting Variants
Samples
Known GenesIGLL3P, LRP5L
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=32
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789008
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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