A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665924



Internal ID9585343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89648747..89648881hg38UCSC Ensembl
chr16:89715155..89715289hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5551496, essv5957488, essv5452507, essv6307835, essv5426735, essv5871451, essv6494640, essv5757384, essv5887739, essv6533390, essv6581582, essv6319249, essv5691748, essv5703223, essv5636663, essv6297561, essv6495861, essv6280196, essv6183779, essv6217372, essv6598378, essv5755491, essv6448326, essv6092281, essv6298682, essv6443231, essv6201286, essv6128341, essv6126834, essv5960770, essv6173633, essv5410825, essv6094092, essv6087306, essv5660882, essv5916222, essv6033741, essv6336830, essv6460548, essv6113940, essv6515653, essv5504891, essv5936061, essv5958083, essv5828596, essv6333463, essv6230863, essv6119437, essv6588937, essv5401639, essv6056425, essv5447052, essv6284453, essv5872192, essv6489559, essv5779536, essv5567144, essv6478974, essv6139657, essv5717122, essv5986045, essv6548467, essv6478147, essv5807586, essv6328207, essv6563113, essv5403250, essv5894772, essv6448432, essv5810580, essv5683923, essv6048552, essv5919862, essv5589042, essv5714449, essv5891902, essv6098221, essv5674236, essv6139572, essv6302579, essv5428506, essv5625125, essv5951158, essv5645883, essv5432578, essv5678831, essv5712157, essv6101970, essv5735249, essv5485406, essv5670676, essv5856466, essv6215545, essv5710686, essv5906592, essv5526926, essv5550945, essv5731903, essv5922722, essv6193643, essv5964667, essv6485845, essv5914998, essv6448837
SamplesHG00323, HG00613, NA18621, HG00309, NA18595, NA18534, HG00344, NA18530, HG00418, HG01052, NA19819, HG01055, HG00705, HG01173, HG01083, NA18612, HG00274, HG00464, NA19093, HG00449, NA18550, HG00261, HG01389, NA19359, HG00614, HG01082, HG00375, HG00542, NA18573, NA18542, HG01350, HG00701, HG00581, HG00651, HG00557, HG00319, HG00479, HG00256, HG00543, NA18559, HG00339, NA19428, HG01375, HG00583, NA18576, HG01048, HG00692, HG00689, NA18636, NA19397, HG00338, HG00419, NA18637, HG00276, HG00284, HG01187, HG00436, NA19380, NA18620, NA18633, HG00653, HG00268, HG00325, HG00260, HG00672, HG00273, HG00232, HG01069, HG00249, HG00524, HG00512, HG01070, NA18562, HG01060, NA18606, NA18582, HG00427, HG00590, HG00443, HG01334, HG00650, NA19394, HG00663, HG00580, HG00448, NA18602, NA18577, HG00654, HG01390, HG00281, HG00285, HG00708, HG01108, HG00275, HG00324, HG00690, HG00684, HG00336, HG00476, HG00345, HG00704, HG00278, NA19007, HG01067
Known GenesCHMP1A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665924
Frequency
Sample Size1151
Observed Gain0
Observed Loss104
Observed Complex0
Frequencyn/a


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