A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6873672



Internal ID9923102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11091761..11133544hg38UCSC Ensembl
Outerchr12:11244360..11286143hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3841784
hg1941784
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745551, esv2745547
Supporting Variants
SamplesSSM091
Known GenesPRH1-PRR4, TAS2R30, TAS2R43
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)essv6873672
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