A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3894189



Internal ID18838572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143544453..143839664hg38UCSC Ensembl
Outerchr1:143538619..144609984hg38UCSC Ensembl
Innerchr1:149039120..149334231hg19UCSC Ensembl
Outerchr1:149025760..149589969hg19UCSC Ensembl
Innerchr1:147305744..147600855hg18UCSC Ensembl
Outerchr1:147292384..147856593hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg381071366
hg19564210
hg18564210
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25788953, essv25792902, essv25779316, essv25790783
Samples
Known GenesFCGR1C, LINC00623, LINC00869, LOC101929780, LOC388692, NBPF23, PPIAL4A, PPIAL4B, PPIAL4C
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3894189
Frequency
Sample Size3017
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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