A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6803491



Internal ID9859304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11056018..11086164hg38UCSC Ensembl
Outerchr12:11208617..11238763hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3830147
hg1930147
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745547, esv2745548, esv2745549
Supporting Variants
SamplesSSM073
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)essv6803491
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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