A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304729



Internal ID14804991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:35283026..35283027hg38UCSC Ensembl
Innerchr11:35282999..35283054hg38UCSC Ensembl
Outerchr11:35282998..35283055hg38UCSC Ensembl
chr11:35304573..35304574hg19UCSC Ensembl
Innerchr11:35304546..35304601hg19UCSC Ensembl
Outerchr11:35304545..35304602hg19UCSC Ensembl
chr11:35261149..35261150hg18UCSC Ensembl
Innerchr11:35261177..35261122hg18UCSC Ensembl
Outerchr11:35261121..35261178hg18UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38285
hg19285
hg18285
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7758177, essv7741479, essv7755905, essv7758559, essv7747196, essv7740850, essv7759299, essv7749696
SamplesNA19137, NA18871, NA19114, NA19093, NA18508, NA19102, NA18522, NA18909
Known GenesSLC1A2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304729
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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