A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722531



Internal ID10306167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:53469370..53469677hg38UCSC Ensembl
Outerchr20:52085909..52086216hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6756230
SamplesSSM058
Known GenesTSHZ2
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)esv2722531
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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