A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723822



Internal ID10307458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45890563..45890689hg38UCSC Ensembl
Outerchr21:47310477..47310603hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6824910, essv6675146
SamplesSSM079, SSM031
Known GenesPCBP3
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)esv2723822
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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