A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669430



Internal ID9588849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:3627674..3630383hg38UCSC Ensembl
chr11:3648904..3651613hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg382710
hg192710
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv186e199
Supporting Variantsessv6077985, essv5604383, essv6451181, essv5981264, essv5916755, essv5557750, essv6459704, essv5795877, essv5835944, essv6267148, essv6139824, essv6183892, essv6003696, essv5626993, essv5955948, essv5873797, essv6034540, essv6201072, essv6206385, essv5654449, essv5754425, essv6553876, essv6236686, essv6529768, essv5995665, essv6262578, essv5806364, essv6592595, essv6383635, essv5765973, essv5450783, essv5967620, essv6007161, essv6317107, essv6471282, essv5528663, essv5429385, essv6314750, essv6241360, essv6409219, essv6021066, essv6260788, essv6463227, essv5714997, essv5835904, essv5897761, essv5598157, essv5951031, essv6253575, essv5464190, essv6093720, essv6147387
SamplesHG01060, HG01098, NA19066, HG01079, HG01066, NA19057, HG00737, NA18988, NA18967, HG00641, NA19076, NA18940, NA18960, NA19062, NA19079, NA18949, HG01067, NA18977, NA19075, NA18990, HG01048, NA18985, NA18973, NA19007, HG00731, NA19070, NA19056, NA19081, NA18981, HG00740, HG01073, NA19000, HG01101, HG01107, NA19012, NA18953, NA19003, NA19072, NA18950, HG00734, NA18941, NA19010, HG01174, NA19083, NA19085, NA19078, HG01055, NA19080, NA18972, NA18983, NA19004, NA19063
Known GenesTRPC2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669430
Frequency
Sample Size1151
Observed Gain0
Observed Loss52
Observed Complex0
Frequencyn/a


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