A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14650397



Internal ID5860408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:133154389..133177831hg38UCSC Ensembl
chr12:133730975..133754417hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3823443
hg1923443
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631330
Supporting Variants
SamplesNA19238
Known GenesZNF10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14650397
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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