A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668303



Internal ID9934408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40222659..40224406hg38UCSC Ensembl
chr17:38378911..38380658hg19UCSC Ensembl
Cytoband17q21.1
Allele length
AssemblyAllele length
hg381748
hg191748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6436334, essv5972047, essv5735468, essv5634886
SamplesNA19920, NA19707, NA19147, NA18511
Known GenesWIPF2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668303
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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