A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34252



Internal ID12643605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167208101..167399010hg38UCSC Ensembl
Innerchr6:167621589..167812498hg19UCSC Ensembl
Innerchr6:167541579..167732488hg18UCSC Ensembl
Innerchr6:167592000..167782909hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38190910
hg19190910
hg18190910
hg17190910
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6978592, essv6986652, essv6978591, essv6978593
SamplesNA12004
Known GenesTCP10, TTLL2, UNC93A
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34252
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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