A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6898484



Internal ID10290688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:44112650..44114109hg38UCSC Ensembl
Outerchr22:44508530..44509989hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381460
hg191460
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724333, esv2724334
Supporting Variants
SamplesSSM099
Known GenesPARVB
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)essv6898484
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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