A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7863725



Internal ID13316164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:87229651..87229661hg38UCSC Ensembl
Innerchr1:87229653..87229659hg38UCSC Ensembl
Outerchr1:87229649..87229663hg38UCSC Ensembl
chr1:87695334..87695344hg19UCSC Ensembl
Innerchr1:87695336..87695342hg19UCSC Ensembl
Outerchr1:87695332..87695346hg19UCSC Ensembl
chr1:87467922..87467932hg18UCSC Ensembl
Innerchr1:87467924..87467930hg18UCSC Ensembl
Outerchr1:87467920..87467934hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3412890
Supporting Variants
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7863725
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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