A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3431824



Internal ID15278780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:18004973..18005033hg38UCSC Ensembl
Innerchr1:18004982..18005021hg38UCSC Ensembl
Outerchr1:18004922..18005081hg38UCSC Ensembl
chr1:18331467..18331527hg19UCSC Ensembl
Innerchr1:18331476..18331515hg19UCSC Ensembl
Outerchr1:18331416..18331575hg19UCSC Ensembl
chr1:18204054..18204114hg18UCSC Ensembl
Innerchr1:18204102..18204063hg18UCSC Ensembl
Outerchr1:18204003..18204162hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38267
hg19267
hg18267
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8898727, essv8898728
SamplesNA19190, NA18871
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3431824
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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