A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6916117



Internal ID9680397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11281401..11365761hg38UCSC Ensembl
Outerchr12:11434335..11518695hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3884361
hg1984361
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745560, esv2745558, esv2745556
Supporting Variants
SamplesSSM016
Known GenesPRB1, PRB4
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)essv6916117
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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