A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663322



Internal ID9929427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:99997428..99998160hg38UCSC Ensembl
chr4:100918585..100919317hg19UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg38733
hg19733
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5511170, essv5740163, essv5594595, essv5969905, essv5790008, essv6584106, essv6359616
SamplesHG00242, NA20805, NA11918, NA20775, HG00740, HG00258, HG00124
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663322
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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