A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674469



Internal ID9940574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45046546..45050821hg38UCSC Ensembl
chr17:43123914..43128189hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg384276
hg194276
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5606669, essv5433433
SamplesNA19982, NA18511
Known GenesDCAKD
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674469
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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