A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985071



Internal ID12978022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:104341618..104496618hg38UCSC Ensembl
Innerchr14:104807955..104962955hg19UCSC Ensembl
Innerchr14:103879000..104034000hg18UCSC Ensembl
Innerchr14:103879000..104034000hg17UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38155001
hg19155001
hg18155001
hg17155001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751161
Supporting Variants
SamplesBEC_91
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985071
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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