A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6894631



Internal ID9941964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11033787..11135972hg38UCSC Ensembl
Outerchr12:11186386..11288571hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38102186
hg19102186
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745547
Supporting Variants
SamplesSSM098
Known GenesPRH1-PRR4, TAS2R30, TAS2R43, TAS2R46
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)essv6894631
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