A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663595



Internal ID9929700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:3627845..3631002hg38UCSC Ensembl
chr11:3649075..3652232hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg383158
hg193158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv186e199
Supporting Variantsessv6515927, essv5523800, essv6264400, essv5463726, essv6581264, essv6234482, essv6413181, essv6102017, essv6392915, essv5424933, essv6404093, essv5803665, essv6234253, essv5900849, essv5785952, essv5572170, essv6554449, essv6528788, essv5542547, essv5707172, essv6124434, essv5972877, essv6574495, essv5544052, essv6333953, essv5578397, essv6468606, essv6081935, essv6060332, essv6121827, essv5458739, essv6089840, essv6203766, essv6150030, essv5838937, essv5618607, essv6212464, essv5931410, essv5539857, essv6001451, essv5435658, essv5643317, essv5898908, essv5742569
SamplesHG01060, HG00542, HG00608, HG00671, NA18599, NA19057, NA18988, NA18595, NA19075, HG00427, HG01124, NA18544, HG00629, HG00443, NA19056, HG00577, HG00475, HG00436, HG00533, NA18534, HG00708, HG00692, HG00651, HG00531, HG00463, NA19012, NA18546, HG00611, NA18632, HG00476, NA18542, NA19072, NA18950, HG00580, NA19010, HG00607, NA18615, HG00620, NA19078, HG00707, HG00578, NA18983, NA19004, NA19063
Known GenesTRPC2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663595
Frequency
Sample Size1151
Observed Gain0
Observed Loss44
Observed Complex0
Frequencyn/a


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