A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6e215



Internal ID20151045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:69793939..69793989hg38UCSC Ensembl
chr1:70259622..70259672hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3563693, esv3559563
Samples
Known GenesLRRC7
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)dgv6e215
Frequency
Sample Size767
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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