A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667501



Internal ID9586920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:50302694..50304250hg38UCSC Ensembl
Outerchr19:50302537..50304403hg38UCSC Ensembl
Innerchr19:50805951..50807507hg19UCSC Ensembl
Outerchr19:50805794..50807660hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg381867
hg191867
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5646482
SamplesHG00237
Known GenesMYH14
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667501
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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