A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6780900



Internal ID10189421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:36283468..36283848hg38UCSC Ensembl
Outerchr1:36749069..36749449hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38381
hg19381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746841
Supporting Variants
SamplesSSM068
Known GenesTHRAP3
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)essv6780900
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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