A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978593



Internal ID12632118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167212101..167357101hg38UCSC Ensembl
Innerchr6:167625589..167770589hg19UCSC Ensembl
Innerchr6:167545579..167690579hg18UCSC Ensembl
Innerchr6:167596000..167741000hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38145001
hg19145001
hg18145001
hg17145001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34252
Supporting Variants
SamplesNA12004
Known GenesTTLL2, UNC93A
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978593
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