A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6695264



Internal ID9982237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:231047235..231047774hg38UCSC Ensembl
Outerchr1:231182981..231183520hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38540
hg19540
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724806
Supporting Variants
SamplesSSM001
Known Genes
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)essv6695264
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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