A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6897627



Internal ID9945097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11015351..11070596hg38UCSC Ensembl
Outerchr12:11167950..11223195hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3855246
hg1955246
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745546
Supporting Variants
SamplesSSM099
Known GenesPRH1-PRR4, TAS2R19, TAS2R31, 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)essv6897627
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