A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723612



Internal ID9957912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:43631960..43632106hg38UCSC Ensembl
Outerchr21:45051841..45051987hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6967815, essv6666830, essv6853118, essv6859093
SamplesSSM027, SSM087, SSM029, SSM086
Known GenesHSF2BP
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)esv2723612
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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