A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9742846



Internal ID18717092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:190203750..190203802hg38UCSC Ensembl
chr1:190172880..190172932hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3544099
Supporting Variants
Samples
Known GenesBRINP3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9742846
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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