A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6670902



Internal ID9740000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:147000633..147000687hg38UCSC Ensembl
Outerchr5:146380196..146380250hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730881, esv2730882
Supporting Variants
SamplesSSM031
Known GenesPPP2R2B
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)essv6670902
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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