A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723660



Internal ID9957960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44443371..44443560hg38UCSC Ensembl
Outerchr21:45863254..45863443hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38190
hg19190
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6686103, essv6682772, essv6776846, essv6853126
SamplesSSM086, SSM033, SSM066, SSM034
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)esv2723660
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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