A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3409403



Internal ID15256364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:58074456..58074468hg38UCSC Ensembl
Innerchr1:58074433..58074491hg38UCSC Ensembl
Outerchr1:58074421..58074503hg38UCSC Ensembl
chr1:58540128..58540140hg19UCSC Ensembl
Innerchr1:58540105..58540163hg19UCSC Ensembl
Outerchr1:58540093..58540175hg19UCSC Ensembl
chr1:58312716..58312728hg18UCSC Ensembl
Innerchr1:58312751..58312693hg18UCSC Ensembl
Outerchr1:58312681..58312763hg18UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863702
SamplesNA12005
Known GenesDAB1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3409403
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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