A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15728031



Internal ID3330153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67934713..67951352hg38UCSC Ensembl
chr17:65930829..65947468hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3816640
hg1916640
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641103
Supporting Variants
SamplesHG02974
Known GenesBPTF
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15728031
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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