A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3550242



Internal ID18751318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:29148484..29148741hg38UCSC Ensembl
Outerchr13:29148421..29148803hg38UCSC Ensembl
Innerchr13:29722621..29722878hg19UCSC Ensembl
Outerchr13:29722558..29722940hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38383
hg19383
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9748989
Samples
Known GenesMTUS2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3550242
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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