A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7841152



Internal ID13721000
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 StatusS
Merged Variantsesv3308045
Supporting Variants
SamplesNA12892
Known GenesDAB1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7841152
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer