A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722475



Internal ID9956775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:48010651..48011092hg38UCSC Ensembl
Outerchr20:46639395..46639836hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38442
hg19442
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6685826, essv6784544, essv6678749
SamplesSSM032, SSM068, SSM034
Known Genes
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)esv2722475
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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