A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6905760



Internal ID10016719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:58643972..58644119hg38UCSC Ensembl
Outerchr20:57219028..57219175hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722625, esv2722624, esv2722626
Supporting Variants
SamplesSSM013
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)essv6905760
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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