A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6920254



Internal ID9683819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:113299852..113300356hg38UCSC Ensembl
Outerchr12:113737657..113738161hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38505
hg19505
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746379
Supporting Variants
SamplesSSM017
Known GenesSLC8B1
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)essv6920254
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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