A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv186e199



Internal ID20123488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:3627415..3631002hg38UCSC Ensembl
chr11:3648645..3652232hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg383588
hg193588
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2669430, esv2657153, esv2657861, esv2663595
SamplesHG00613, NA19012, HG00734, HG00607, NA18595, NA18534, NA19081, HG01055, HG00731, HG00464, NA19003, NA19072, HG00707, HG01098, HG01079, HG00463, HG00577, NA18953, NA18972, HG00475, NA19010, HG00542, HG01174, NA18542, NA18546, HG00651, NA19004, HG01101, HG00578, HG00737, HG00699, NA18950, NA18949, NA18632, HG00592, HG00543, HG01107, NA19062, NA19085, NA18967, NA19076, HG00472, NA19057, NA18960, HG01048, NA18990, HG00692, HG01124, NA19083, NA19066, HG00533, HG00419, NA18973, NA19075, NA19056, HG00403, NA19000, HG00436, HG00620, NA19080, HG00653, HG01066, HG00629, HG00560, HG01073, NA18977, NA18941, HG00478, HG00740, NA18988, HG00534, HG01060, NA18985, NA18940, HG00427, NA18983, HG00443, NA18599, NA19078, HG00611, HG00650, HG00580, NA18544, HG00608, NA19063, HG00708, NA19070, HG00690, HG00641, NA18981, NA19079, HG00626, NA18615, HG00476, HG00671, NA19007, HG00531, HG01067
Known GenesTRPC2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv186e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss98
Observed Complex0
Frequencyn/a


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