A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9747358



Internal ID18374918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234394910..234395044hg38UCSC Ensembl
chr1:234530656..234530790hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3548611
Supporting Variants
Samples
Known GenesTARBP1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9747358
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