A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692150



Internal ID15031484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:228781682..228782980hg38UCSC Ensembl
Innerchr1:228781980..228782682hg38UCSC Ensembl
Outerchr1:228780682..228783980hg38UCSC Ensembl
chr1:228917429..228918727hg19UCSC Ensembl
Innerchr1:228917727..228918429hg19UCSC Ensembl
Outerchr1:228916429..228919727hg19UCSC Ensembl
chr1:226984052..226985350hg18UCSC Ensembl
Innerchr1:226985052..226984350hg18UCSC Ensembl
Outerchr1:226983052..226986350hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3388136
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692150
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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