A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6758952



Internal ID10164438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:44112513..44115754hg38UCSC Ensembl
Outerchr22:44508393..44511634hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg383242
hg193242
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724333
Supporting Variants
SamplesSSM059
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)essv6758952
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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