A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15612878



Internal ID5614694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:11973639..11978532hg38UCSC Ensembl
chr17:11876956..11881849hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg384894
hg194894
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639962
Supporting Variants
SamplesHG03199
Known GenesZNF18
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15612878
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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