A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6948662



Internal ID9989586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:35249141..35250086hg38UCSC Ensembl
Outerchr22:35645134..35646079hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38946
hg19946
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724180
Supporting Variants
SamplesSSM003
Known Genes
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)essv6948662
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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