A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6941568



Internal ID10046462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:44154820..44155219hg38UCSC Ensembl
Outerchr22:44550700..44551099hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38400
hg19400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724341, esv2724340
Supporting Variants
SamplesSSM022
Known GenesPARVB
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)essv6941568
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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