A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3436839



Internal ID15283792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:4471995..4472021hg38UCSC Ensembl
Innerchr1:4471991..4472023hg38UCSC Ensembl
Outerchr1:4471967..4472049hg38UCSC Ensembl
chr1:4532055..4532081hg19UCSC Ensembl
Innerchr1:4532051..4532083hg19UCSC Ensembl
Outerchr1:4532027..4532109hg19UCSC Ensembl
chr1:4431915..4431941hg18UCSC Ensembl
Innerchr1:4431943..4431911hg18UCSC Ensembl
Outerchr1:4431887..4431969hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8674025
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3436839
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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