A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6665833



Internal ID9645440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:49907440..49907936hg38UCSC Ensembl
Outerchr20:48523977..48524473hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38497
hg19497
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722492
Supporting Variants
SamplesSSM004
Known GenesSPATA2
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)essv6665833
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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