A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15701758



Internal ID6829277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:54631571..54700970hg38UCSC Ensembl
chr17:52708932..52778331hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3869400
hg1969400
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640823
Supporting Variants
SamplesNA20903
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15701758
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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