A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14519707



Internal ID3881364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:67431230..67593684hg38UCSC Ensembl
chr12:67825010..67987464hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38162455
hg19162455
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629831
Supporting Variants
SamplesHG03520
Known GenesLOC100507175
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14519707
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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