A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14616122



Internal ID4617938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:119587649..119641066hg38UCSC Ensembl
chr12:120025454..120078871hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3853418
hg1953418
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630909
Supporting Variants
SamplesHG04183
Known GenesTMEM233
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14616122
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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