A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6800180



Internal ID9855763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:4279604..4280154hg38UCSC Ensembl
Outerchr12:4388770..4389320hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38551
hg19551
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745447
Supporting Variants
SamplesSSM072
Known GenesCCND2
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)essv6800180
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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