A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6972060



Internal ID9726627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:35845835..35846386hg38UCSC Ensembl
Outerchr22:36241882..36242433hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38552
hg19552
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724188
Supporting Variants
SamplesSSM028
Known GenesRBFOX2
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)essv6972060
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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