A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659851



Internal ID9925956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48256849..48256976hg38UCSC Ensembl
chr22:48652661..48652788hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5847696, essv5397565, essv5727326, essv5812882, essv5912613, essv5611782, essv5917991, essv5606692, essv5415528, essv6225297, essv5484051, essv5507011, essv6353527, essv5834614, essv6561318, essv5787274, essv6562216, essv5838485, essv5825272, essv6035074, essv5566824
SamplesHG01521, NA19909, NA19393, NA20346, NA20356, NA19920, NA19373, NA18489, NA20317, NA19916, NA19138, NA19317, NA18908, NA19985, NA19391, NA19318, HG01551, NA19428, NA19093, NA19463, HG01191
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659851
Frequency
Sample Size1151
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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