A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3557769



Internal ID18412159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42570264..42570315hg38UCSC Ensembl
chr21:43990374..43990425hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9756516
Samples
Known GenesSLC37A1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3557769
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