A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3550347



Internal ID18751423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:39360213..39361343hg38UCSC Ensembl
Outerchr13:39359999..39361470hg38UCSC Ensembl
Innerchr13:39934350..39935480hg19UCSC Ensembl
Outerchr13:39934136..39935607hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg381472
hg191472
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv103e215
Supporting Variantsessv9749094
Samples
Known GenesLHFP
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3550347
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