A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987148



Internal ID12978017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:104341375..104446539hg38UCSC Ensembl
Innerchr14:104807712..104912876hg19UCSC Ensembl
Innerchr14:103878757..103983921hg18UCSC Ensembl
Innerchr14:103878757..103983921hg17UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38105165
hg19105165
hg18105165
hg17105165
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)essv6987148
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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