A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3551172



Internal ID18405562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:113828950..113829182hg38UCSC Ensembl
Outerchr13:113828945..113829225hg38UCSC Ensembl
Innerchr13:114531923..114532155hg19UCSC Ensembl
Outerchr13:114531918..114532198hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9749919
Samples
Known GenesGAS6, GAS6-AS1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3551172
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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