A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672127



Internal ID9591546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:38809388..38862741hg38UCSC Ensembl
Outerchr4:38809351..38862791hg38UCSC Ensembl
Innerchr4:38811009..38864362hg19UCSC Ensembl
Outerchr4:38810972..38864412hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3853441
hg1953441
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6042912
SamplesNA19473
Known GenesTLR6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672127
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