A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3345588



Internal ID14845855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:59687634..59687649hg38UCSC Ensembl
Innerchr1:59687636..59687647hg38UCSC Ensembl
Outerchr1:59687632..59687651hg38UCSC Ensembl
chr1:60153306..60153321hg19UCSC Ensembl
Innerchr1:60153308..60153319hg19UCSC Ensembl
Outerchr1:60153304..60153323hg19UCSC Ensembl
chr1:59925894..59925909hg18UCSC Ensembl
Innerchr1:59925896..59925907hg18UCSC Ensembl
Outerchr1:59925892..59925911hg18UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863705
SamplesNA12005
Known GenesFGGY
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3345588
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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