A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791148



Internal ID18821646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:104480016..105304573hg38UCSC Ensembl
Innerchr9:107242297..108066854hg19UCSC Ensembl
Innerchr9:106282118..107106675hg18UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg38824558
hg19824558
hg18824558
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891706
Supporting Variants
Samples
Known GenesABCA1, LOC286367, NIPSNAP3A, NIPSNAP3B, OR13C2, OR13C3, OR13C4, OR13C5, OR13C8, OR13C9, OR13D1, OR13F1, SLC44A1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=370
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791148
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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