A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642518



Internal ID7029288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:50823070..50826332hg38UCSC Ensembl
Innerchr18:50823084..50826319hg38UCSC Ensembl
Outerchr18:50823057..50826346hg38UCSC Ensembl
chr18:48349440..48352702hg19UCSC Ensembl
Innerchr18:48349454..48352689hg19UCSC Ensembl
Outerchr18:48349427..48352716hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg383263
hg193263
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15869660
SamplesHG02386
Known GenesMRO
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642518
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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