A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308045



Internal ID15154993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:57606192..57606193hg38UCSC Ensembl
Innerchr1:57606176..57606209hg38UCSC Ensembl
Outerchr1:57606175..57606210hg38UCSC Ensembl
chr1:58071864..58071865hg19UCSC Ensembl
Innerchr1:58071848..58071881hg19UCSC Ensembl
Outerchr1:58071847..58071882hg19UCSC Ensembl
chr1:57844452..57844453hg18UCSC Ensembl
Innerchr1:57844469..57844436hg18UCSC Ensembl
Outerchr1:57844435..57844470hg18UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38210
hg19210
hg18210
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7839756, essv7841152, essv7840617
SamplesNA12891, NA12878, NA12892
Known GenesDAB1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308045
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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