A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978592



Internal ID12632104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167208582..167341956hg38UCSC Ensembl
Innerchr6:167622070..167755444hg19UCSC Ensembl
Innerchr6:167542060..167675434hg18UCSC Ensembl
Innerchr6:167592481..167725855hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38133375
hg19133375
hg18133375
hg17133375
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978592
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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