A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673401



Internal ID9939506
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 StatusM
Merged Variants
Supporting Variantsessv5419298
SamplesHG01048
Known GenesCCDC144NL, LOC440416
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673401
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer