A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641748



Internal ID7028519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:9598705..9604564hg38UCSC Ensembl
Innerchr18:9598727..9604543hg38UCSC Ensembl
Outerchr18:9598684..9604586hg38UCSC Ensembl
chr18:9598703..9604562hg19UCSC Ensembl
Innerchr18:9598725..9604541hg19UCSC Ensembl
Outerchr18:9598682..9604584hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg385860
hg195860
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15800586
SamplesHG01790
Known GenesPPP4R1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641748
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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