A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672965



Internal ID9939070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:47488172..47489539hg38UCSC Ensembl
Outerchr17:47488015..47489698hg38UCSC Ensembl
Innerchr17:45565538..45566905hg19UCSC Ensembl
Outerchr17:45565381..45567064hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg381684
hg191684
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5610911
SamplesHG00629
Known GenesMRPL45P2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672965
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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