A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3368539



Internal ID14868798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:222742809..222742816hg38UCSC Ensembl
Innerchr1:222742811..222742814hg38UCSC Ensembl
Outerchr1:222742807..222742818hg38UCSC Ensembl
chr1:222916151..222916158hg19UCSC Ensembl
Innerchr1:222916153..222916156hg19UCSC Ensembl
Outerchr1:222916149..222916160hg19UCSC Ensembl
chr1:220982774..220982781hg18UCSC Ensembl
Innerchr1:220982776..220982779hg18UCSC Ensembl
Outerchr1:220982772..220982783hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3857
hg1957
hg1857
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863822
SamplesNA12005
Known GenesFAM177B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3368539
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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