A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3550436



Internal ID18404826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:48307594..48308349hg38UCSC Ensembl
Outerchr13:48307553..48308427hg38UCSC Ensembl
Innerchr13:48881730..48882485hg19UCSC Ensembl
Outerchr13:48881689..48882563hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38875
hg19875
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9749183
Samples
Known GenesRB1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3550436
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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