A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6721569



Internal ID9783429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:23768376..23850543hg38UCSC Ensembl
Outerchr20:23749013..23831180hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg3882168
hg1982168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722308, esv2722305
Supporting Variants
SamplesSSM044
Known GenesCST2
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)essv6721569
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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