A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3336606



Internal ID14836877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161848638..161850336hg38UCSC Ensembl
Innerchr1:161849336..161849638hg38UCSC Ensembl
Outerchr1:161847638..161851336hg38UCSC Ensembl
chr1:161818428..161820126hg19UCSC Ensembl
Innerchr1:161819126..161819428hg19UCSC Ensembl
Outerchr1:161817428..161821126hg19UCSC Ensembl
chr1:160085052..160086750hg18UCSC Ensembl
Innerchr1:160086052..160085750hg18UCSC Ensembl
Outerchr1:160084052..160087750hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692004
SamplesNA19239
Known GenesATF6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3336606
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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