A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746304



Internal ID10327274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:103982926..103984753hg38UCSC Ensembl
Outerchr12:104376704..104378531hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381828
hg191828
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6765814, essv6977299
SamplesSSM029, SSM063
Known GenesTDG
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)esv2746304
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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