A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988461



Internal ID12627392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:162310557..162478557hg38UCSC Ensembl
Innerchr6:162731589..162899589hg19UCSC Ensembl
Innerchr6:162651579..162819579hg18UCSC Ensembl
Innerchr6:162702000..162870000hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38168001
hg19168001
hg18168001
hg17168001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752098
Supporting Variants
SamplesBEC_497
Known GenesPARK2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988461
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