A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5614886



Internal ID9427119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:1384348..1392818hg38UCSC Ensembl
Outerchr17:1384311..1392868hg38UCSC Ensembl
Innerchr17:1287642..1296112hg19UCSC Ensembl
Outerchr17:1287605..1296162hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg388558
hg198558
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2662454
Supporting Variants
SamplesNA18627
Known GenesYWHAE
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5614886
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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