A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6716309



Internal ID9648325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:41277660..41278945hg38UCSC Ensembl
Outerchr20:39906300..39907585hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg381286
hg191286
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722418
Supporting Variants
SamplesSSM006
Known GenesZHX3
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)essv6716309
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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