A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6865488



Internal ID9664049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11084786..11085088hg38UCSC Ensembl
Outerchr12:11237385..11237687hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38303
hg19303
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745547, esv2745550, esv2745549
Supporting Variants
SamplesSSM011
Known GenesPRH1-PRR4
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)essv6865488
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