A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6924343



Internal ID9687033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:27495217..27502214hg38UCSC Ensembl
Outerchr12:27648150..27655147hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg386998
hg196998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745668, esv2745664
Supporting Variants
SamplesSSM018
Known GenesSMCO2
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)essv6924343
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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