A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14182331



Internal ID4184147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:63272529..63273630hg38UCSC Ensembl
Innerchr11:63272530..63273630hg38UCSC Ensembl
Outerchr11:63272529..63273631hg38UCSC Ensembl
chr11:63040001..63041102hg19UCSC Ensembl
Innerchr11:63040002..63041102hg19UCSC Ensembl
Outerchr11:63040001..63041103hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg381102
hg191102
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626632
Supporting Variants
SamplesHG03196
Known GenesMIR3680-1, MIR3680-2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14182331
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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