A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3540345



Internal ID18741421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:120175975..120179175hg38UCSC Ensembl
Outerchr1:120175834..120179977hg38UCSC Ensembl
Innerchr1:145093751..145096953hg19UCSC Ensembl
Outerchr1:145092943..145097096hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg384144
hg194154
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9739092
Samples
Known GenesLOC100288142, NBPF9, SEC22B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3540345
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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