A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6783658



Internal ID10187247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:131382421..131382700hg38UCSC Ensembl
Outerchr12:131866966..131867245hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746835, esv2746851, esv2746850, esv2746849
Supporting Variants
SamplesSSM068
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)essv6783658
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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