A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724107



Internal ID10307743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:27324746..27325464hg38UCSC Ensembl
Outerchr22:27720707..27721425hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38719
hg19719
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6766422, essv6820989
SamplesSSM078, SSM063
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)esv2724107
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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