A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722039



Internal ID3272535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:958895..959534hg38UCSC Ensembl
Outerchr20:939538..940177hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38640
hg19640
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6971757, essv6877319, essv6796942, essv6960749, essv6902093, essv6852567, essv6913500, essv6828558, essv6717686
SamplesSSM092, SSM086, SSM043, SSM071, SSM012, SSM028, SSM015, SSM026, SSM080
Known GenesRSPO4
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)esv2722039
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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