A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864075



Internal ID12969858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200699807..200699838hg38UCSC Ensembl
Innerchr2:200699760..200699885hg38UCSC Ensembl
Outerchr2:200699729..200699916hg38UCSC Ensembl
chr2:201564530..201564561hg19UCSC Ensembl
Innerchr2:201564483..201564608hg19UCSC Ensembl
Outerchr2:201564452..201564639hg19UCSC Ensembl
chr2:201272775..201272806hg18UCSC Ensembl
Innerchr2:201272853..201272728hg18UCSC Ensembl
Outerchr2:201272697..201272884hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3361090
Supporting Variants
SamplesNA12005
Known GenesAOX2P
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864075
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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