A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2742912



Internal ID10297028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:50060580..50060988hg38UCSC Ensembl
Outerchr22:50499009..50499417hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38409
hg19409
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6925549
SamplesSSM018
Known GenesMLC1
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)esv2742912
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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