A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3370039



Internal ID15217015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:224588898..224588911hg38UCSC Ensembl
Innerchr1:224588897..224588912hg38UCSC Ensembl
Outerchr1:224588884..224588925hg38UCSC Ensembl
chr1:224776600..224776613hg19UCSC Ensembl
Innerchr1:224776599..224776614hg19UCSC Ensembl
Outerchr1:224776586..224776627hg19UCSC Ensembl
chr1:222843223..222843236hg18UCSC Ensembl
Innerchr1:222843237..222843222hg18UCSC Ensembl
Outerchr1:222843209..222843250hg18UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg38275
hg19275
hg18275
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8673924
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3370039
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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