A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6794420



Internal ID10199248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:40794435..40794869hg38UCSC Ensembl
Outerchr5:40794537..40794971hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38435
hg19435
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730120
Supporting Variants
SamplesSSM071
Known GenesPRKAA1
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)essv6794420
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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