A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305104



Internal ID14805366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:69774862..69774863hg38UCSC Ensembl
Innerchr1:69774818..69774907hg38UCSC Ensembl
Outerchr1:69774817..69774908hg38UCSC Ensembl
chr1:70240545..70240546hg19UCSC Ensembl
Innerchr1:70240501..70240590hg19UCSC Ensembl
Outerchr1:70240500..70240591hg19UCSC Ensembl
chr1:70013133..70013134hg18UCSC Ensembl
Innerchr1:70013178..70013089hg18UCSC Ensembl
Outerchr1:70013088..70013179hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38259
hg19259
hg18259
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7752876, essv7749725, essv7761516
SamplesNA19093, NA18505, NA18499
Known GenesLRRC7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305104
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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