A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6853130



Internal ID10251299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44928893..44929025hg38UCSC Ensembl
Outerchr21:46348808..46348940hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723697, esv2723696
Supporting Variants
SamplesSSM086
Known GenesITGB2-AS1
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)essv6853130
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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