A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3894200



Internal ID18838583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:151375344..151423306hg38UCSC Ensembl
Outerchr1:151360691..151435217hg38UCSC Ensembl
Innerchr1:151347820..151395782hg19UCSC Ensembl
Outerchr1:151333167..151407693hg19UCSC Ensembl
Innerchr1:149614444..149662406hg18UCSC Ensembl
Outerchr1:149599791..149674317hg18UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3874527
hg1974527
hg1874527
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25789586, essv25787856, essv25788138, essv25788884, essv25787949, essv25789271, essv25789352, essv25789267, essv25789609, essv25789199, essv25789512, essv25792917
Samples
Known GenesPOGZ, PSMB4, SELENBP1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3894200
Frequency
Sample Size3017
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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