A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6791487



Internal ID9983534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:40398083..40399186hg38UCSC Ensembl
Outerchr22:40794087..40795190hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg381104
hg191104
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724264
Supporting Variants
SamplesSSM001
Known GenesSGSM3
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)essv6791487
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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