A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6725733



Internal ID10136640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:29179903..29180258hg38UCSC Ensembl
Outerchr21:30552224..30552579hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg38356
hg19356
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723316, esv2723315
Supporting Variants
SamplesSSM045
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)essv6725733
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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