A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6807514



Internal ID9865150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:212288668..212288847hg38UCSC Ensembl
Outerchr1:212462010..212462189hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38180
hg19180
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722473
Supporting Variants
SamplesSSM075
Known GenesPPP2R5A
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)essv6807514
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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