A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722647



Internal ID10306283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:60087727..60088059hg38UCSC Ensembl
Outerchr20:58662782..58663114hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38333
hg19333
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6885687, essv6839543, essv6797017
SamplesSSM083, SSM071, SSM095
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)esv2722647
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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