A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669638



Internal ID4713972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29679408..29681890hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv5883394, essv5707929, essv5641357, essv5659784, essv6177795, essv6065632, essv6149538, essv6324045, essv5445979, essv6262009, essv5964010, essv5428886, essv6506811, essv6369199, essv5611418, essv6212139, essv5487646
SamplesHG00734, NA19437, NA19311, NA19455, NA19430, NA18868, NA19917, NA19316, NA19324, NA19247, NA19374, NA19901, HG01170, NA19328, NA19235, NA18917, NA19439
Known GenesEWSR1
Method
Analysis
Platform
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669638
Frequency
Sample Size1151
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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