A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6864189



Internal ID10261252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:232700895..232701059hg38UCSC Ensembl
Outerchr1:232836641..232836805hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725030, esv2725016
Supporting Variants
SamplesSSM089
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)essv6864189
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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