A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3437885



Internal ID15284838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:231357438..231357457hg38UCSC Ensembl
Innerchr1:231357434..231357461hg38UCSC Ensembl
Outerchr1:231357415..231357480hg38UCSC Ensembl
chr1:231493184..231493203hg19UCSC Ensembl
Innerchr1:231493180..231493207hg19UCSC Ensembl
Outerchr1:231493161..231493226hg19UCSC Ensembl
chr1:229559807..229559826hg18UCSC Ensembl
Innerchr1:229559830..229559803hg18UCSC Ensembl
Outerchr1:229559784..229559849hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9598613
SamplesNA19141
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3437885
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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