A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3406482



Internal ID15253444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:50564286..50564300hg38UCSC Ensembl
Innerchr1:50564282..50564302hg38UCSC Ensembl
Outerchr1:50564268..50564316hg38UCSC Ensembl
chr1:51029958..51029972hg19UCSC Ensembl
Innerchr1:51029954..51029974hg19UCSC Ensembl
Outerchr1:51029940..51029988hg19UCSC Ensembl
chr1:50802546..50802560hg18UCSC Ensembl
Innerchr1:50802562..50802542hg18UCSC Ensembl
Outerchr1:50802528..50802576hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38232
hg19232
hg18232
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8899005, essv8898999, essv8898998, essv8898995, essv8899000, essv8899002, essv8899001, essv8898997, essv8898996
SamplesNA11829, NA12414, NA12004, NA11918, NA12287, NA12043, NA07037, NA06986, NA12776
Known GenesFAF1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3406482
Frequency
Sample Size185
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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