A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6951084



Internal ID9992259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:151851013..151853673hg38UCSC Ensembl
Outerchr1:151823489..151826149hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg382661
hg192661
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717918
Supporting Variants
SamplesSSM004
Known GenesTHEM5
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)essv6951084
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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