A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14398171



Internal ID4223374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:17021696..17092733hg38UCSC Ensembl
chr12:17174630..17245667hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3871038
hg1971038
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628700
Supporting Variants
SamplesHG03800
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14398171
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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