A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3550741



Internal ID18751817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:78020042..78020333hg38UCSC Ensembl
Outerchr13:78019955..78020390hg38UCSC Ensembl
Innerchr13:78594177..78594468hg19UCSC Ensembl
Outerchr13:78594090..78594525hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg38436
hg19436
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9749488
Samples
Known GenesLINC00446
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3550741
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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