A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14607177



Internal ID1516375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113704089..113720549hg38UCSC Ensembl
chr12:114141894..114158354hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3816461
hg1916461
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630803
Supporting Variants
SamplesHG01392
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14607177
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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