A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6921500



Internal ID9681176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:25348819..25349245hg38UCSC Ensembl
Outerchr22:25744786..25745212hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38427
hg19427
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724086, esv2724085, esv2724081
Supporting Variants
SamplesSSM017
Known Genes
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)essv6921500
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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