A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv685e199



Internal ID20123987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:17683979..17686273hg38UCSC Ensembl
chr2:17865246..17867540hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg382295
hg192295
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2668328, esv2670003
SamplesHG00501
Known GenesSMC6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv685e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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