A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691973



Internal ID15030935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:143287062..143305831hg38UCSC Ensembl
Innerchr1:143288059..143304881hg38UCSC Ensembl
Outerchr1:143286062..143305831hg38UCSC Ensembl
chr1:149004461..149023026hg19UCSC Ensembl
Innerchr1:149005428..149022026hg19UCSC Ensembl
Outerchr1:149004461..149024026hg19UCSC Ensembl
chr1:147271052..147289650hg18UCSC Ensembl
Innerchr1:147272052..147288650hg18UCSC Ensembl
Outerchr1:147270052..147290650hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3818770
hg1918566
hg1818599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3446179
Supporting Variants
SamplesNA19238
Known GenesLOC101929780
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691973
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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