A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307531



Internal ID15154479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:65260733..65260734hg38UCSC Ensembl
Innerchr14:65260702..65260765hg38UCSC Ensembl
Outerchr14:65260701..65260766hg38UCSC Ensembl
chr14:65727451..65727452hg19UCSC Ensembl
Innerchr14:65727420..65727483hg19UCSC Ensembl
Outerchr14:65727419..65727484hg19UCSC Ensembl
chr14:64797204..64797205hg18UCSC Ensembl
Innerchr14:64797236..64797173hg18UCSC Ensembl
Outerchr14:64797172..64797237hg18UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg3866
hg1966
hg1866
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7749632, essv7750648, essv7741721, essv7755946, essv7755332, essv7762238
SamplesNA18502, NA18489, NA19257, NA19108, NA19093, NA19102
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307531
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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