A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676177



Internal ID9942282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:1483935..1490365hg38UCSC Ensembl
Outerchr17:1483898..1490415hg38UCSC Ensembl
Innerchr17:1387229..1393659hg19UCSC Ensembl
Outerchr17:1387192..1393709hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg386518
hg196518
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5593359
SamplesNA18637
Known GenesMYO1C
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676177
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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