A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543600



Internal ID18397990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:184967925..184968225hg38UCSC Ensembl
Outerchr1:184967856..184968263hg38UCSC Ensembl
Innerchr1:184937057..184937357hg19UCSC Ensembl
Outerchr1:184936988..184937395hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38408
hg19408
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9742347
Samples
Known GenesFAM129A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543600
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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