A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6758275



Internal ID9818502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:111858619..111859386hg38UCSC Ensembl
Outerchr12:112296423..112297190hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg38768
hg19768
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746359
Supporting Variants
SamplesSSM059
Known GenesMAPKAPK5
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)essv6758275
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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