A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14650411



Internal ID4652227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:133215743..133242775hg38UCSC Ensembl
chr12:133792329..133819361hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3827033
hg1927033
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631335
Supporting Variants
SamplesNA19238
Known GenesANHX
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14650411
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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