A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv81e55



Internal ID20126560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:19734966..20158001hg38UCSC Ensembl
chr14:20203125..20626160hg19UCSC Ensembl
chr14:19272965..19696000hg18UCSC Ensembl
chr14:19272965..19696000hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38423036
hg19423036
hg18423036
hg17423036
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2751267, esv2751265, esv2751264, esv2751266
SamplesBEC_22, BEC_354, BEC_563, BEC_633
Known GenesOR4K1, OR4K13, OR4K14, OR4K15, OR4K17, OR4K2, OR4K5, OR4L1, OR4M1, OR4N2, OR4N5, OR4Q3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv81e55
Frequency
Sample Size771
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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