A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790783



Internal ID18827293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143544453..144609984hg38UCSC Ensembl
Innerchr1:149039120..149589969hg19UCSC Ensembl
Innerchr1:147305744..147856593hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg381065532
hg19550850
hg18550850
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894189
Supporting Variants
Samples
Known GenesFCGR1C, LINC00623, LINC00869, LOC101929780, LOC388692, NBPF23, PPIAL4A, PPIAL4B, PPIAL4C
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=37
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790783
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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