A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3550243



Internal ID18751319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:29317442..29317690hg38UCSC Ensembl
Outerchr13:29317417..29317752hg38UCSC Ensembl
Innerchr13:29891579..29891827hg19UCSC Ensembl
Outerchr13:29891554..29891889hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38336
hg19336
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9748990
Samples
Known GenesMTUS2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3550243
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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