A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3564123



Internal ID18418513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:78829767..78829817hg38UCSC Ensembl
chr4:79750921..79750971hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9762870
Samples
Known GenesBMP2K
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3564123
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer