A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791948



Internal ID18819976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22721590..23121326hg38UCSC Ensembl
Innerchr15:22751742..23151516hg19UCSC Ensembl
Innerchr15:20303106..20702957hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38399737
hg19399775
hg18399852
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892604
Supporting Variants
Samples
Known GenesCYFIP1, LOC283683, NIPA1, NIPA2, TUBGCP5
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=133
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791948
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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