A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6809415



Internal ID9864193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:79878035..79879792hg38UCSC Ensembl
Outerchr12:80271815..80273572hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg381758
hg191758
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746114
Supporting Variants
SamplesSSM075
Known GenesPPP1R12A
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)essv6809415
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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