A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3353489



Internal ID15200470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149177532..149182031hg38UCSC Ensembl
Innerchr1:149178533..149181031hg38UCSC Ensembl
Outerchr1:149176531..149183025hg38UCSC Ensembl
chr1:144514995..144519493hg19UCSC Ensembl
Innerchr1:144515995..144518493hg19UCSC Ensembl
Outerchr1:144513995..144520493hg19UCSC Ensembl
chr1:143226352..143230850hg18UCSC Ensembl
Innerchr1:143227352..143229850hg18UCSC Ensembl
Outerchr1:143225352..143231850hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg384500
hg194499
hg184499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691882
SamplesNA12892
Known GenesLOC100288142, LOC728875
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3353489
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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