A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722046



Internal ID10305682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:1019575..1019829hg38UCSC Ensembl
Outerchr20:1000218..1000472hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38255
hg19255
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv647e201
Supporting Variantsessv6902094, essv6666172, essv6901261
SamplesSSM100, SSM029, SSM012
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)esv2722046
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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