A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6961219



Internal ID10063439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:45587325..45587383hg38UCSC Ensembl
Outerchr22:45983205..45983263hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724408, esv2724407
Supporting Variants
SamplesSSM026
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)essv6961219
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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