A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675122



Internal ID9941227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:157981316..157983281hg38UCSC Ensembl
chr6:158402348..158404313hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg381966
hg191966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5737610
SamplesNA12399
Known GenesSYNJ2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675122
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