A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3540867



Internal ID18395257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:153032465..153032537hg38UCSC Ensembl
chr1:153004941..153005013hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9739614
Samples
Known GenesSPRR1B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3540867
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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