A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14649563



Internal ID4850310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132565800..132596262hg38UCSC Ensembl
chr12:133142386..133172848hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3830463
hg1930463
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631300
Supporting Variants
SamplesNA12272
Known GenesFBRSL1, MIR6763
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14649563
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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