A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6816577



Internal ID9875759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:13247943..13382061hg38UCSC Ensembl
Outerchr1:13353563..13497494hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38134119
hg19143932
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2743986
Supporting Variants
SamplesSSM078
Known GenesPRAMEF13, PRAMEF15, PRAMEF16, PRAMEF18, PRAMEF19, PRAMEF23, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8, PRAMEF9
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)essv6816577
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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