A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6797308



Internal ID10198588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10792132..10800341hg38UCSC Ensembl
Outerchr21:10712116..10720325hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg388210
hg198210
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723077, esv2723079
Supporting Variants
SamplesSSM071
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)essv6797308
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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