A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6763384



Internal ID9822980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11049949..11050637hg38UCSC Ensembl
Outerchr12:11202548..11203236hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38689
hg19689
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745547, esv2745548, esv2745546
Supporting Variants
SamplesSSM062
Known GenesPRH1-PRR4
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)essv6763384
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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