A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25782812



Internal ID18823695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22756880..23103297hg38UCSC Ensembl
Innerchr15:22769771..23116232hg19UCSC Ensembl
Innerchr15:20321135..20667673hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38346418
hg19346462
hg18346539
Variant TypeCNV loss
Copy Number1
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=123
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25782812
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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