A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14604016



Internal ID4605832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109585273..109611413hg38UCSC Ensembl
chr12:110023078..110049218hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg3826141
hg1926141
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630722
Supporting Variants
SamplesHG01804
Known GenesMVK
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14604016
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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