A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722492



Internal ID9956792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:49907408..49907936hg38UCSC Ensembl
Outerchr20:48523945..48524473hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38529
hg19529
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6717728, essv6665833
SamplesSSM043, SSM004
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)esv2722492
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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