A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676971



Internal ID9596390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:3074923..3076163hg38UCSC Ensembl
Outerchr18:3074886..3076213hg38UCSC Ensembl
Innerchr18:3074921..3076161hg19UCSC Ensembl
Outerchr18:3074884..3076211hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg381328
hg191328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5398272
SamplesHG00318
Known GenesMYOM1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676971
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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