A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743201



Internal ID9977485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:44884243..44884692hg38UCSC Ensembl
Outerchr22:45280123..45280572hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38450
hg19450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv739e201
Supporting Variantsessv6954512
SamplesSSM025
Known GenesPHF21B
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)esv2743201
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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