A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6933224



Internal ID9694172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44502714..44503205hg38UCSC Ensembl
Outerchr21:45922597..45923088hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38492
hg19492
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723638, esv2723666
Supporting Variants
SamplesSSM020
Known GenesTSPEAR
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)essv6933224
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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