A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7741479



Internal ID14053128
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 StatusS
Merged Variantsesv3304729
Supporting Variants
SamplesNA18871
Known GenesSLC1A2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7741479
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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