A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15633747



Internal ID6542001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:17263735..17279613hg38UCSC Ensembl
chr17:17167049..17182927hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3815879
hg1915879
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640124
Supporting Variants
SamplesNA20587
Known GenesCOPS3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15633747
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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