A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789014



Internal ID18832784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22846220..23084047hg38UCSC Ensembl
Innerchr15:22789021..23026848hg19UCSC Ensembl
Innerchr15:20340385..20578289hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38237828
hg19237828
hg18237905
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892604
Supporting Variants
Samples
Known GenesCYFIP1, NIPA2, TUBGCP5
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=98
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789014
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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