A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5419298



Internal ID9074874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:20892849..20897542hg38UCSC Ensembl
chr17:20796162..20800855hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg384694
hg194694
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2673401
Supporting Variants
SamplesHG01048
Known GenesCCDC144NL, LOC440416
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5419298
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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