A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724116



Internal ID9958417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:27770678..27770816hg38UCSC Ensembl
Outerchr22:28166666..28166804hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6858910, essv6852935
SamplesSSM086, SSM087
Known GenesMN1
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)esv2724116
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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