A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731599



Internal ID5042331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:13139889..13140523hg19UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv6805334
SamplesSSM074
Known GenesPHACTR1
Method
Analysis
PlatformIllumina HiSeq2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2731599
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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