A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6702221



Internal ID9648883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:58977962..58978561hg38UCSC Ensembl
Outerchr5:58273789..58274388hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38600
hg19600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730225
Supporting Variants
SamplesSSM006
Known GenesPDE4D
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)essv6702221
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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