A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677927



Internal ID9597346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:52785748..52788361hg38UCSC Ensembl
chr14:53252466..53255079hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg382614
hg192614
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5564062, essv6461966, essv5434269, essv5846835, essv6469344, essv5473753, essv6198186, essv5934821, essv5407395, essv5733130, essv5437724, essv6183612, essv5726628, essv5954046, essv6278126, essv5767085, essv6262095, essv5985749, essv6098867, essv6337679, essv6031370, essv6576116, essv6175220, essv5513916, essv5773663, essv6466581, essv5765541, essv5585115, essv6556562, essv6513291, essv6508758, essv6008378, essv5614638, essv6440544, essv6155038, essv6486855, essv5939744, essv5476931, essv6150823, essv5554230, essv5537201, essv5874247
SamplesHG00442, NA19058, HG00671, NA18980, NA18561, NA18599, NA18526, NA18627, NA18940, NA18595, NA18635, NA18567, NA18942, HG00610, HG00537, HG00530, NA19007, NA18614, NA18544, NA18605, NA19077, HG00657, HG00475, NA18637, NA18579, NA18534, HG00708, NA18593, NA18974, NA18952, NA18543, HG00418, HG00620, NA19078, HG00578, NA18631, NA19060, NA19080, NA18624, NA19074, HG00581, NA18620
Known GenesGNPNAT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677927
Frequency
Sample Size1151
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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