A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6839751



Internal ID9889346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:17877209..17877645hg38UCSC Ensembl
Outerchr22:18359975..18360411hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38437
hg19437
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723959
Supporting Variants
SamplesSSM083
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)essv6839751
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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