A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6828873



Internal ID10229468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10792310..10800810hg38UCSC Ensembl
Outerchr21:10711647..10720147hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg388501
hg198501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723077
Supporting Variants
SamplesSSM080
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)essv6828873
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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