A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723907



Internal ID10307543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:46201065..46201337hg38UCSC Ensembl
Outerchr21:47620979..47621251hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38273
hg19273
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6718106, essv6917363
SamplesSSM016, SSM043
Known GenesLSS
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)esv2723907
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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