A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8898728



Internal ID14402751
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 StatusS
Merged Variantsesv3431824
Supporting Variants
SamplesNA18871
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8898728
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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