A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3642501



Internal ID7029271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:49959827..49961215hg38UCSC Ensembl
Innerchr18:49959847..49961195hg38UCSC Ensembl
Outerchr18:49959807..49961235hg38UCSC Ensembl
chr18:47486197..47487585hg19UCSC Ensembl
Innerchr18:47486217..47487565hg19UCSC Ensembl
Outerchr18:47486177..47487605hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg381389
hg191389
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15868000
SamplesHG03624
Known GenesMYO5B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3642501
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer