A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15764805



Internal ID5766621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81830055..81831652hg38UCSC Ensembl
Innerchr17:81830058..81831650hg38UCSC Ensembl
Outerchr17:81830053..81831655hg38UCSC Ensembl
chr17:79787931..79789528hg19UCSC Ensembl
Innerchr17:79787934..79789526hg19UCSC Ensembl
Outerchr17:79787929..79789531hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381598
hg191598
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641406
Supporting Variants
SamplesHG02427
Known GenesFAM195B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15764805
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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