A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14586043



Internal ID4587859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99051318..99121883hg38UCSC Ensembl
chr12:99445096..99515661hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3870566
hg1970566
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630520
Supporting Variants
SamplesNA19316
Known GenesANKS1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14586043
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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