A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6810395



Internal ID9867448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:86385812..86385985hg38UCSC Ensembl
Outerchr1:86851495..86851668hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714374, esv2714363
Supporting Variants
SamplesSSM076
Known GenesODF2L
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)essv6810395
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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