A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15710927



Internal ID2459949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:58099926..58117115hg38UCSC Ensembl
chr17:56177287..56194476hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3817190
hg1917190
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640880
Supporting Variants
SamplesHG02165
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15710927
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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