A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6916186



Internal ID9680458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:113299840..113300343hg38UCSC Ensembl
Outerchr12:113737645..113738148hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38504
hg19504
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746379
Supporting Variants
SamplesSSM016
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)essv6916186
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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