A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8902100



Internal ID13757006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:185593043..185593079hg38UCSC Ensembl
Innerchr1:185593058..185593061hg38UCSC Ensembl
Outerchr1:185593022..185593097hg38UCSC Ensembl
chr1:185562175..185562211hg19UCSC Ensembl
Innerchr1:185562190..185562193hg19UCSC Ensembl
Outerchr1:185562154..185562229hg19UCSC Ensembl
chr1:183828798..183828834hg18UCSC Ensembl
Innerchr1:183828816..183828813hg18UCSC Ensembl
Outerchr1:183828777..183828852hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38207
hg19207
hg18207
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3425927
Supporting Variants
SamplesNA18498
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8902100
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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