A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986683



Internal ID12632249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:142135084..142296748hg38UCSC Ensembl
Innerchr3:141853926..142015590hg19UCSC Ensembl
Innerchr3:143336616..143498280hg18UCSC Ensembl
Innerchr3:143336624..143498288hg17UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38161665
hg19161665
hg18161665
hg17161665
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34483
Supporting Variants
SamplesNA12144
Known GenesGK5, TFDP2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986683
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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