A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3346457



Internal ID14846722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:35283024..35283036hg38UCSC Ensembl
Innerchr11:35283020..35283038hg38UCSC Ensembl
Outerchr11:35283008..35283052hg38UCSC Ensembl
chr11:35304571..35304583hg19UCSC Ensembl
Innerchr11:35304567..35304585hg19UCSC Ensembl
Outerchr11:35304555..35304599hg19UCSC Ensembl
chr11:35261147..35261159hg18UCSC Ensembl
Innerchr11:35261161..35261143hg18UCSC Ensembl
Outerchr11:35261131..35261175hg18UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38285
hg19285
hg18285
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8952361, essv8952362, essv8952359, essv8952357, essv8952364, essv8952363, essv8952358, essv8952365
SamplesNA19137, NA18871, NA19114, NA19093, NA18508, NA19102, NA18522, NA18909
Known GenesSLC1A2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3346457
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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