A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6803568



Internal ID10205913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:128658056..128658201hg38UCSC Ensembl
Outerchr12:129142601..129142746hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746656, esv2746655
Supporting Variants
SamplesSSM073
Known GenesTMEM132C
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)essv6803568
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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