A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986696



Internal ID12979073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:67756686..67823086hg38UCSC Ensembl
Innerchr6:68466579..68532979hg19UCSC Ensembl
Innerchr6:68523300..68589700hg18UCSC Ensembl
Innerchr6:68523300..68589700hg17UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg3866401
hg1966401
hg1866401
hg1766401
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34754
Supporting Variants
SamplesNA12234
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986696
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