A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724108



Internal ID10307744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:27325036..27325180hg38UCSC Ensembl
Outerchr22:27720997..27721141hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6820989
SamplesSSM078
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)esv2724108
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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