A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15758107



Internal ID5759923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80274417..80303391hg38UCSC Ensembl
chr17:78248216..78277191hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3828975
hg1928976
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641370
Supporting Variants
SamplesHG02190
Known GenesRNF213
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15758107
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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