A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6688281



Internal ID9756275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11247025..11348820hg38UCSC Ensembl
Outerchr12:11399931..11501754hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38101796
hg19101824
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745556
Supporting Variants
SamplesSSM035
Known GenesPRB3, PRB4
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)essv6688281
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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