A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6916206



Internal ID10027163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:128657937..128658314hg38UCSC Ensembl
Outerchr12:129142482..129142859hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38378
hg19378
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746655
Supporting Variants
SamplesSSM016
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)essv6916206
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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