A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6803546



Internal ID10205935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:78484761..78858070hg38UCSC Ensembl
Outerchr12:78878541..79251850hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38373310
hg19373310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746103
Supporting Variants
SamplesSSM073
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)essv6803546
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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