A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641045



Internal ID7027819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:65678906..65712118hg38UCSC Ensembl
Innerchr17:65678906..65712118hg38UCSC Ensembl
Outerchr17:65678406..65712618hg38UCSC Ensembl
chr17:63675024..63708236hg19UCSC Ensembl
Innerchr17:63675024..63708236hg19UCSC Ensembl
Outerchr17:63674524..63708736hg19UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg3833213
hg1933213
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15724997
SamplesHG03736
Known GenesCEP112
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641045
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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