A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305148



Internal ID15152096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:61031673..61031674hg38UCSC Ensembl
Innerchr14:61031605..61031742hg38UCSC Ensembl
Outerchr14:61031604..61031743hg38UCSC Ensembl
chr14:61498391..61498392hg19UCSC Ensembl
Innerchr14:61498323..61498460hg19UCSC Ensembl
Outerchr14:61498322..61498461hg19UCSC Ensembl
chr14:60568144..60568145hg18UCSC Ensembl
Innerchr14:60568213..60568076hg18UCSC Ensembl
Outerchr14:60568075..60568214hg18UCSC Ensembl
Cytoband14q23.1
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 Variantsessv7759192, essv7754831
SamplesNA18861, NA18508
Known GenesSLC38A6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305148
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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