A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978591



Internal ID12632105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167208101..167342101hg38UCSC Ensembl
Innerchr6:167621589..167755589hg19UCSC Ensembl
Innerchr6:167541579..167675579hg18UCSC Ensembl
Innerchr6:167592000..167726000hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38134001
hg19134001
hg18134001
hg17134001
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)essv6978591
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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