A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7838539



Internal ID15007084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226903018..226903019hg38UCSC Ensembl
Innerchr1:226902978..226903059hg38UCSC Ensembl
Outerchr1:226902977..226903060hg38UCSC Ensembl
chr1:227090719..227090720hg19UCSC Ensembl
Innerchr1:227090679..227090760hg19UCSC Ensembl
Outerchr1:227090678..227090761hg19UCSC Ensembl
chr1:225157342..225157343hg18UCSC Ensembl
Innerchr1:225157383..225157302hg18UCSC Ensembl
Outerchr1:225157301..225157384hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38269
hg19269
hg18269
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3309902
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7838539
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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