A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692011



Internal ID14718530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:167808891..167810089hg38UCSC Ensembl
Innerchr1:167809089..167809891hg38UCSC Ensembl
Outerchr1:167807891..167811089hg38UCSC Ensembl
chr1:167778128..167779326hg19UCSC Ensembl
Innerchr1:167778326..167779128hg19UCSC Ensembl
Outerchr1:167777128..167780326hg19UCSC Ensembl
chr1:166044752..166045950hg18UCSC Ensembl
Innerchr1:166045752..166044950hg18UCSC Ensembl
Outerchr1:166043752..166046950hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3330175
Supporting Variants
SamplesNA19239
Known GenesADCY10
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692011
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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