A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6756413



Internal ID9816005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:23683434..23685319hg38UCSC Ensembl
Outerchr22:24025621..24027506hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg381886
hg191886
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724041, esv2724060
Supporting Variants
SamplesSSM058
Known GenesGUSBP11
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)essv6756413
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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