A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9748990



Internal ID18723236
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 StatusS
Merged Variantsesv3550243
Supporting Variants
Samples
Known GenesMTUS2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9748990
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer