A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6789176



Internal ID9848687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:31580023..31580398hg38UCSC Ensembl
Outerchr1:32045624..32045999hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38376
hg19376
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746441
Supporting Variants
SamplesSSM070
Known GenesTINAGL1
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)essv6789176
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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