A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1955n100



Internal ID20153571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:88712120..88999575hg38UCSC Ensembl
chr14:89178464..89465919hg19UCSC Ensembl
chr14:88248217..88535672hg18UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38287456
hg19287456
hg18287456
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1048901, nsv1046178
Samples
Known GenesEML5, TTC8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1955n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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