A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6724547



Internal ID10135575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:90671637..90672259hg38UCSC Ensembl
Outerchr12:91065414..91066036hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg38623
hg19623
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746185
Supporting Variants
SamplesSSM045
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)essv6724547
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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