A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307818



Internal ID14808080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51362031..51362032hg38UCSC Ensembl
Innerchr1:51361959..51362104hg38UCSC Ensembl
Outerchr1:51361958..51362105hg38UCSC Ensembl
chr1:51827703..51827704hg19UCSC Ensembl
Innerchr1:51827631..51827776hg19UCSC Ensembl
Outerchr1:51827630..51827777hg19UCSC Ensembl
chr1:51600291..51600292hg18UCSC Ensembl
Innerchr1:51600364..51600219hg18UCSC Ensembl
Outerchr1:51600218..51600365hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38236
hg19236
hg18236
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7749999, essv7761131, essv7740710, essv7757194, essv7742755
SamplesNA12045, NA07346, NA18964, NA12144, NA12776
Known GenesEPS15
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307818
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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