A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6678942



Internal ID9745777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:17801104..17801404hg38UCSC Ensembl
Outerchr22:18283870..18284170hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723954
Supporting Variants
SamplesSSM032
Known GenesMICAL3
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)essv6678942
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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