A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722620



Internal ID10306256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:58309358..58309531hg38UCSC Ensembl
Outerchr20:56884414..56884587hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6717739
SamplesSSM043
Known GenesPPP4R1L
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)esv2722620
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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