A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302758



Internal ID15149706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:72444764..72444895hg38UCSC Ensembl
Innerchr14:72444829..72444829hg38UCSC Ensembl
Outerchr14:72444664..72444995hg38UCSC Ensembl
chr14:72911472..72911603hg19UCSC Ensembl
Innerchr14:72911537..72911537hg19UCSC Ensembl
Outerchr14:72911372..72911703hg19UCSC Ensembl
chr14:71981225..71981356hg18UCSC Ensembl
Innerchr14:71981290..71981290hg18UCSC Ensembl
Outerchr14:71981125..71981456hg18UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38132
hg19132
hg18132
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1294e59
Supporting Variantsessv7734449, essv7733035, essv7733460, essv7738859, essv7736837, essv7733609, essv7735462, essv7736875, essv7732188, essv7736524, essv7738758, essv7738198, essv7733354, essv7737818, essv7737190, essv7731858, essv7739207, essv7737422, essv7732454, essv7733701, essv7736291, essv7734937, essv7732822, essv7734548, essv7735600, essv7737063, essv7732255, essv7738564, essv7733203, essv7733866, essv7736144, essv7734221, essv7737145, essv7738465, essv7734872, essv7735803, essv7731703, essv7737346, essv7732357, essv7732297, essv7738334, essv7734194, essv7734823, essv7732614, essv7735307, essv7732383, essv7734659, essv7739111, essv7731964, essv7732936, essv7737484, essv7737716
SamplesNA18502, NA18592, NA18508, NA10851, NA12414, NA18545, NA19190, NA18870, NA18526, NA18563, NA18944, NA18519, NA12891, NA18942, NA18571, NA19138, NA19137, NA19238, NA19239, NA18638, NA18605, NA12878, NA18956, NA18572, NA18573, NA19114, NA11894, NA12892, NA18853, NA19099, NA19225, NA12144, NA18523, NA18570, NA18858, NA18945, NA18542, NA11881, NA19108, NA18952, NA19240, NA18943, NA07037, NA18501, NA12749, NA19093, NA19102, NA19129, NA18511, NA12776, NA18965, NA18577
Known GenesRGS6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302758
Frequency
Sample Size185
Observed Gain52
Observed Loss0
Observed Complex0
Frequencyn/a


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