A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6212398



Internal ID9189801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:68567006..68569085hg38UCSC Ensembl
chr17:66563147..66565226hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg382080
hg192080
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2661984
Supporting Variants
SamplesNA19247
Known GenesFAM20A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6212398
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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