A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722992



Internal ID10306628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:8548876..8550359hg38UCSC Ensembl
Outerchr21:9437709..9439192hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg381484
hg191484
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv680e201
Supporting Variantsessv6950384, essv6858996, essv6725694, essv6868591, essv6863795, essv6917281, essv6729477
SamplesSSM024, SSM045, SSM046, SSM087, SSM088, SSM089, SSM016
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)esv2722992
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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