A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3350597



Internal ID15197578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:145306716..145306914hg38UCSC Ensembl
Outerchr1:145304718..145308914hg38UCSC Ensembl
chr1:144209395..144211593hg19UCSC Ensembl
Innerchr1:144210395..144210593hg19UCSC Ensembl
Outerchr1:144208395..144212593hg19UCSC Ensembl
chr1:142920752..142922950hg18UCSC Ensembl
Innerchr1:142921752..142921950hg18UCSC Ensembl
Outerchr1:142919752..142923950hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg384197
hg192199
hg182199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691874
SamplesNA19239
Known GenesLOC100288142
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3350597
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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