A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5840238



Internal ID9189432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42066797..42070073hg38UCSC Ensembl
chr17:40218815..40222091hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg383277
hg193277
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2676577
Supporting Variants
SamplesHG01465
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5840238
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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