A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723109



Internal ID10306745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10781932..10783334hg38UCSC Ensembl
Outerchr21:10729123..10730525hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg381403
hg191403
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv692e201
Supporting Variantsessv6949140, essv6843055, essv6898521, essv6846879, essv6668377, essv6954562, essv6967745, essv6859019, essv6804322, essv6682730
SamplesSSM027, SSM087, SSM073, SSM003, SSM033, SSM085, SSM010, SSM025, SSM004, SSM099
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)esv2723109
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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