A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6839766



Internal ID9889359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:23575780..23641109hg38UCSC Ensembl
Outerchr22:23917967..23983296hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3865330
hg1965330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724041, esv2724056
Supporting Variants
SamplesSSM083
Known GenesC22orf43, GUSBP11, IGLL1
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)essv6839766
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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