A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7837147



Internal ID15038490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:48879415..48879416hg38UCSC Ensembl
Innerchr1:48879302..48879529hg38UCSC Ensembl
Outerchr1:48879301..48879530hg38UCSC Ensembl
chr1:49345087..49345088hg19UCSC Ensembl
Innerchr1:49344974..49345201hg19UCSC Ensembl
Outerchr1:49344973..49345202hg19UCSC Ensembl
chr1:49117674..49117675hg18UCSC Ensembl
Innerchr1:49117788..49117561hg18UCSC Ensembl
Outerchr1:49117560..49117789hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3897
hg1997
hg1897
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3308453
Supporting Variants
SamplesNA19239
Known GenesAGBL4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7837147
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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