A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724192



Internal ID3274688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:36316945..36317291hg38UCSC Ensembl
Outerchr22:36712990..36713336hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38347
hg19347
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6843691
SamplesSSM084
Known GenesMYH9
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)esv2724192
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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