A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6674981



Internal ID10088677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:45587321..45587374hg38UCSC Ensembl
Outerchr22:45983201..45983254hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724408, esv2724407
Supporting Variants
SamplesSSM031
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)essv6674981
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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