A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674378



Internal ID9593797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:44811352..44814375hg38UCSC Ensembl
Outerchr17:44811315..44814425hg38UCSC Ensembl
Innerchr17:42888720..42891743hg19UCSC Ensembl
Outerchr17:42888683..42891793hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg383111
hg193111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5959551
SamplesHG00328
Known GenesGJC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674378
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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