A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662106



Internal ID9928211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:36593221..36594471hg38UCSC Ensembl
chr2:36820364..36821614hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg381251
hg191251
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5637338, essv6515461, essv6185952, essv5447907, essv6446766, essv6100311, essv5676291, essv6016331, essv6239382, essv6126341, essv6554262, essv5726478, essv5948369, essv5706248, essv5579168, essv6597597, essv6489277, essv5977603, essv6156826, essv6326775, essv6298806, essv5824700, essv5482285, essv5499974, essv5895224, essv6020022, essv6019966, essv6322541, essv5963471, essv5671884, essv5818817, essv6506916, essv5471518, essv5583525, essv5785232, essv5788909, essv6545845, essv6467654, essv6043443, essv6551301, essv6416306, essv5844414
SamplesHG00403, HG00442, HG00536, NA18621, NA18592, NA18980, NA18596, NA18550, HG00448, HG00634, HG00610, NA19062, NA18574, NA18611, NA18985, NA18605, NA18613, HG00596, HG00653, HG00583, NA18637, NA18630, NA18548, HG00684, HG00525, NA18553, NA19003, NA18543, NA18628, NA19072, NA18615, HG00614, HG00578, NA18631, HG00698, HG00595, HG00628, NA18623, NA19063, NA18622, HG00581, NA18620
Known GenesFEZ2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662106
Frequency
Sample Size1151
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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