A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6797690



Internal ID9855132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:247870777..247871026hg38UCSC Ensembl
Outerchr1:248034079..248034328hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727906
Supporting Variants
SamplesSSM072
Known GenesTRIM58
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)essv6797690
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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