A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307501



Internal ID14807763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:87949148..87949149hg38UCSC Ensembl
Innerchr14:87949120..87949177hg38UCSC Ensembl
Outerchr14:87949119..87949178hg38UCSC Ensembl
chr14:88415492..88415493hg19UCSC Ensembl
Innerchr14:88415464..88415521hg19UCSC Ensembl
Outerchr14:88415463..88415522hg19UCSC Ensembl
chr14:87485245..87485246hg18UCSC Ensembl
Innerchr14:87485274..87485217hg18UCSC Ensembl
Outerchr14:87485216..87485275hg18UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38287
hg19287
hg18287
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7748258, essv7742038, essv7743784, essv7747994, essv7756649, essv7747368, essv7748601, essv7762680, essv7757358
SamplesNA18561, NA18603, NA18550, NA18547, NA18605, NA18537, NA18573, NA18576, NA18562
Known GenesGALC
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307501
Frequency
Sample Size185
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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