A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6776830



Internal ID10182627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:33876100..33876263hg38UCSC Ensembl
Outerchr21:35248404..35248567hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38164
hg19164
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723359, esv2723358
Supporting Variants
SamplesSSM066
Known GenesITSN1
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)essv6776830
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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