A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7743784



Internal ID13939056
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 StatusS
Merged Variantsesv3307501
Supporting Variants
SamplesNA18603
Known GenesGALC
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7743784
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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