A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6862517



Internal ID10257923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132563516..132563989hg38UCSC Ensembl
Outerchr12:133140102..133140575hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38474
hg19474
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747015, esv2747014
Supporting Variants
SamplesSSM088
Known GenesFBRSL1
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6862517
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