A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7842439



Internal ID15008468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43376723..43376724hg38UCSC Ensembl
Innerchr1:43376707..43376740hg38UCSC Ensembl
Outerchr1:43376706..43376741hg38UCSC Ensembl
chr1:43842394..43842395hg19UCSC Ensembl
Innerchr1:43842378..43842411hg19UCSC Ensembl
Outerchr1:43842377..43842412hg19UCSC Ensembl
chr1:43614981..43614982hg18UCSC Ensembl
Innerchr1:43614998..43614965hg18UCSC Ensembl
Outerchr1:43614964..43614999hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38292
hg19292
hg18292
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3308354
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7842439
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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