A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15637122



Internal ID2591640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18274995..18279138hg38UCSC Ensembl
chr17:18178309..18182452hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg384144
hg194144
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640146
Supporting Variants
SamplesHG02298
Known GenesTOP3A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15637122
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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