A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6745253



Internal ID9652733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:34653950..34656491hg38UCSC Ensembl
Outerchr20:33241754..33244295hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg382542
hg192542
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722356
Supporting Variants
SamplesSSM007
Known GenesPIGU
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)essv6745253
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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