A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692182



Internal ID15066483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234861082..234863680hg38UCSC Ensembl
Innerchr1:234862082..234862680hg38UCSC Ensembl
Outerchr1:234860082..234864680hg38UCSC Ensembl
chr1:234996829..234999427hg19UCSC Ensembl
Innerchr1:234997829..234998427hg19UCSC Ensembl
Outerchr1:234995829..235000427hg19UCSC Ensembl
chr1:233063452..233066050hg18UCSC Ensembl
Innerchr1:233064452..233065050hg18UCSC Ensembl
Outerchr1:233062452..233067050hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg382599
hg192599
hg182599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3428386
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692182
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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