A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15692536



Internal ID5122860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48808059..48814578hg38UCSC Ensembl
chr17:46885421..46891940hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg386520
hg196520
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640726
Supporting Variants
SamplesNA18563
Known GenesTTLL6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15692536
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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