A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14184855



Internal ID5973768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:63519653..63520901hg38UCSC Ensembl
Innerchr11:63519673..63520882hg38UCSC Ensembl
Outerchr11:63519634..63520921hg38UCSC Ensembl
chr11:63287125..63288373hg19UCSC Ensembl
Innerchr11:63287145..63288354hg19UCSC Ensembl
Outerchr11:63287106..63288393hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg381249
hg191249
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626645
Supporting Variants
SamplesNA19383
Known GenesMIR3680-1, MIR3680-2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14184855
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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