A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6721826



Internal ID10129885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:45591837..45591979hg38UCSC Ensembl
Outerchr22:45987717..45987859hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38143
hg19143
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724409
Supporting Variants
SamplesSSM044
Known GenesFBLN1
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)essv6721826
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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