A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979609



Internal ID12980453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:70360965..70371704hg38UCSC Ensembl
Innerchr4:71226682..71237421hg19UCSC Ensembl
Innerchr4:71261271..71272010hg18UCSC Ensembl
Innerchr4:71407442..71418181hg17UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3810740
hg1910740
hg1810740
hg1710740
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34954
Supporting Variants
SamplesNA18579
Known GenesSMR3A
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979609
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