A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724191



Internal ID3274687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:36316430..36317443hg38UCSC Ensembl
Outerchr22:36712475..36713488hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg381014
hg191014
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6668802, essv6843691, essv6764085, essv6807236
SamplesSSM084, SSM062, SSM030, SSM074
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)esv2724191
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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