A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5618712



Internal ID9206376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:3882949..3883103hg38UCSC Ensembl
Outerchr17:3882912..3883153hg38UCSC Ensembl
Innerchr17:3786243..3786397hg19UCSC Ensembl
Outerchr17:3786206..3786447hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2662233
Supporting Variants
SamplesNA06986
Known GenesCAMKK1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5618712
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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