A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8674581



Internal ID13690184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:180507325..180507365hg38UCSC Ensembl
Innerchr2:180507328..180507360hg38UCSC Ensembl
Outerchr2:180507288..180507402hg38UCSC Ensembl
chr2:181372052..181372092hg19UCSC Ensembl
Innerchr2:181372055..181372087hg19UCSC Ensembl
Outerchr2:181372015..181372129hg19UCSC Ensembl
chr2:181080297..181080337hg18UCSC Ensembl
Innerchr2:181080332..181080300hg18UCSC Ensembl
Outerchr2:181080260..181080374hg18UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg38135
hg19135
hg18135
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3421922
Supporting Variants
SamplesNA12891
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8674581
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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