A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723522



Internal ID10307158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42078297..42078739hg38UCSC Ensembl
Outerchr21:43498406..43498848hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38443
hg19443
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv712e201
Supporting Variantsessv6733416, essv6773351, essv6747743, essv6853108, essv6721905, essv6885924, essv6913913
SamplesSSM065, SSM047, SSM044, SSM086, SSM007, SSM015, SSM095
Known GenesUMODL1
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)esv2723522
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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