A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672394



Internal ID9591813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25263161..25520208hg38UCSC Ensembl
chr22:25659128..25916175hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38257048
hg19257048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv828e199
Supporting Variantsessv5699137, essv6215109, essv5732700
SamplesNA11830, NA20771, NA18570
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672394
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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