A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8825022



Internal ID14745332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180859068..180859068hg38UCSC Ensembl
Innerchr1:180859067..180859069hg38UCSC Ensembl
Outerchr1:180859008..180859118hg38UCSC Ensembl
chr1:180828204..180828204hg19UCSC Ensembl
Innerchr1:180828203..180828205hg19UCSC Ensembl
Outerchr1:180828144..180828254hg19UCSC Ensembl
chr1:179094827..179094827hg18UCSC Ensembl
Innerchr1:179094828..179094826hg18UCSC Ensembl
Outerchr1:179094767..179094877hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3439699
Supporting Variants
SamplesNA19240
Known GenesXPR1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8825022
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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