A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6880361



Internal ID9929124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:32771706..32772138hg38UCSC Ensembl
Outerchr21:34144017..34144449hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38433
hg19433
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723346
Supporting Variants
SamplesSSM093
Known GenesC21orf49, PAXBP1
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)essv6880361
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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