A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723083



Internal ID10306719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10799292..10800298hg38UCSC Ensembl
Outerchr21:10712159..10713165hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg381007
hg191007
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv687e201
Supporting Variantsessv6961297, essv6967731, essv6824828, essv6946333, essv6868608, essv6967732
SamplesSSM027, SSM079, SSM023, SSM026, SSM089
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)esv2723083
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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