A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3334401



Internal ID15181389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:200413220..200413555hg38UCSC Ensembl
Innerchr1:200413346..200413426hg38UCSC Ensembl
Outerchr1:200413091..200413681hg38UCSC Ensembl
chr1:200382348..200382683hg19UCSC Ensembl
Innerchr1:200382474..200382554hg19UCSC Ensembl
Outerchr1:200382219..200382809hg19UCSC Ensembl
chr1:198648971..198649306hg18UCSC Ensembl
Innerchr1:198649097..198649177hg18UCSC Ensembl
Outerchr1:198648842..198649432hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38336
hg19336
hg18336
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8670861, essv8670862
SamplesNA12878, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3334401
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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