A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714363



Internal ID9948647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:86385710..86386129hg38UCSC Ensembl
Outerchr1:86851393..86851812hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38420
hg19420
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6810395, essv6877711
SamplesSSM093, SSM076
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)esv2714363
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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