A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663404



Internal ID9582823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89848673..89848849hg38UCSC Ensembl
chr16:89915081..89915257hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38177
hg19177
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6144378, essv5707782, essv6121151, essv5952675, essv6588576, essv6142805, essv6307669, essv5808379, essv6334206, essv5728648, essv6328191, essv5576697, essv5924567, essv5403645, essv5606290, essv6311234, essv5798561, essv6225209, essv5716293, essv6482939, essv5418250, essv5718145, essv6003634, essv5408561, essv5740821, essv5764332, essv6271953, essv5621054, essv5462852, essv5834779, essv6368437, essv5426886, essv5545133, essv5710571, essv5570664, essv5869650, essv5742879, essv6421336, essv6283050, essv5876752, essv5570537, essv6337999, essv6087508, essv5580198, essv5428672, essv6031826, essv5668975, essv6282372, essv6237306, essv6429634, essv6575509, essv6511442, essv6302335, essv6205809, essv6470047, essv6169643
SamplesHG00613, HG00607, HG00619, NA18534, HG00344, NA18530, HG00437, HG00500, HG01173, HG00449, HG00310, HG00463, HG00614, HG00428, HG00475, HG00139, HG00698, HG00651, HG00699, NA18557, NA18596, NA18632, HG00543, HG00421, HG00583, HG00689, NA18636, NA18637, HG00254, HG00276, HG00237, HG00584, HG00436, HG00620, HG00653, HG00263, NA19657, HG00501, NA18613, HG00513, HG00524, HG00512, HG00534, NA18597, HG00590, NA18599, HG00663, NA18544, HG00608, HG00281, HG00656, HG00422, NA18610, HG00690, HG00684, HG00136
Known GenesSPIRE2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663404
Frequency
Sample Size1151
Observed Gain0
Observed Loss56
Observed Complex0
Frequencyn/a


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