A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979301



Internal ID12633284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:43004908..43034808hg38UCSC Ensembl
Innerchr19:43509060..43538960hg19UCSC Ensembl
Innerchr19:48200900..48230800hg18UCSC Ensembl
Innerchr19:48200900..48230800hg17UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3829901
hg1929901
hg1829901
hg1729901
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34210
Supporting Variants
SamplesNA18524
Known GenesPSG11
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979301
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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