A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3626818



Internal ID7013648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:73683417..73687320hg38UCSC Ensembl
Innerchr11:73683467..73687270hg38UCSC Ensembl
Outerchr11:73683367..73687370hg38UCSC Ensembl
chr11:73394462..73398365hg19UCSC Ensembl
Innerchr11:73394512..73398315hg19UCSC Ensembl
Outerchr11:73394412..73398415hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg383904
hg193904
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14212362
SamplesNA18861
Known GenesRAB6A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3626818
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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