A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5468737



Internal ID8446141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:35169413..35175119hg38UCSC Ensembl
Outerchr19:35169042..35175489hg38UCSC Ensembl
Innerchr19:35660316..35666022hg19UCSC Ensembl
Outerchr19:35659945..35666392hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg386448
hg196448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2670879
Supporting Variants
SamplesHG00537
Known GenesFXYD5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5468737
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