A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3560236



Internal ID18761312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:140415222..140415272hg38UCSC Ensembl
chr2:141172791..141172841hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9758983
Samples
Known GenesLRP1B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3560236
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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