A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8900468



Internal ID14959303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:100701823..100701876hg38UCSC Ensembl
Innerchr1:100701835..100701864hg38UCSC Ensembl
Outerchr1:100701782..100701917hg38UCSC Ensembl
chr1:101167379..101167432hg19UCSC Ensembl
Innerchr1:101167391..101167420hg19UCSC Ensembl
Outerchr1:101167338..101167473hg19UCSC Ensembl
chr1:100939967..100940020hg18UCSC Ensembl
Innerchr1:100940008..100939979hg18UCSC Ensembl
Outerchr1:100939926..100940061hg18UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38267
hg19267
hg18267
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3375861
Supporting Variants
SamplesNA19190
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8900468
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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