A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745711



Internal ID9979995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:30967436..30967938hg38UCSC Ensembl
Outerchr12:31120371..31120873hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38503
hg19503
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6772054, essv6716803
SamplesSSM043, SSM008
Known GenesTSPAN11
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)esv2745711
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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