A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6971128



Internal ID9643331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11025986..11053004hg38UCSC Ensembl
Outerchr12:11178585..11205603hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3827019
hg1927019
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745547, esv2745546
Supporting Variants
SamplesSSM004
Known GenesPRH1-PRR4, TAS2R31
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)essv6971128
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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