A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3385215



Internal ID15232185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:22785024..22785033hg38UCSC Ensembl
Innerchr2:22785024..22785033hg38UCSC Ensembl
Outerchr2:22785015..22785042hg38UCSC Ensembl
chr2:23007896..23007905hg19UCSC Ensembl
Innerchr2:23007896..23007905hg19UCSC Ensembl
Outerchr2:23007887..23007914hg19UCSC Ensembl
chr2:22861401..22861410hg18UCSC Ensembl
Innerchr2:22861410..22861401hg18UCSC Ensembl
Outerchr2:22861392..22861419hg18UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863877
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3385215
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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