A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6800320



Internal ID10202646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:131332093..131332460hg38UCSC Ensembl
Outerchr12:131816638..131817005hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38368
hg19368
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746835, esv2746837
Supporting Variants
SamplesSSM072
Known Genes
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)essv6800320
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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