A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6873669



Internal ID9923099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11054768..11083345hg38UCSC Ensembl
Outerchr12:11207367..11235944hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3828578
hg1928578
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745547, esv2745548, esv2745549
Supporting Variants
SamplesSSM091
Known GenesPRH1-PRR4, 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)essv6873669
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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