A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791385



Internal ID19164472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25265758..25437629hg38UCSC Ensembl
Innerchr22:25661725..25833596hg19UCSC Ensembl
Innerchr22:23991725..24163596hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38171872
hg19171872
hg18171872
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=35
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791385
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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