A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676293



Internal ID9942398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:50312422..50315754hg38UCSC Ensembl
chr8:51224982..51228314hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg383333
hg193333
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1286e199
Supporting Variantsessv5621899, essv6389491, essv6276599, essv5573971, essv5568564, essv6524138, essv5989749, essv6382116, essv6174264, essv5750740, essv5942113, essv5996577, essv6035586, essv5741947, essv5663784, essv5676863, essv5821861, essv6088582, essv5811915, essv6459717, essv5562849, essv6215744, essv6168880, essv6347424, essv6539580, essv5444148, essv5855517, essv5773112, essv5410365, essv6390726, essv6596663, essv5484201, essv5924418, essv5963181, essv5427783, essv5785386, essv6205980, essv5797555, essv5812960, essv6403572, essv5964014, essv5480053, essv6294869, essv6102919, essv6068346, essv5926035, essv6067501, essv6165081, essv5980371, essv6151728, essv5634403, essv6093858, essv6052623, essv5676685, essv6039312, essv5620695, essv6047172, essv5573014, essv6139920, essv6398547, essv5996074, essv5861088, essv5675321, essv5689325, essv6170350, essv6066938, essv5771161, essv5792419, essv6424084, essv6066034, essv5676418, essv6422154, essv6109350, essv6554239, essv6005469, essv6381267, essv6514784, essv5573141, essv6398255, essv5981474, essv6153820, essv6387044, essv5636725, essv5510908, essv5997133, essv6149465, essv5889373, essv5628821, essv6543825, essv6482650, essv5889848, essv6324671, essv6239015, essv5739912, essv6079449, essv6345894, essv6442535, essv5849298, essv6475047, essv5944317, essv5723533, essv5593238, essv5796254, essv6498963, essv5699872, essv5437364, essv5924664, essv6534565, essv5468397, essv5805718, essv5710304, essv6494345, essv5517705, essv5732442
SamplesHG00403, NA19394, HG00442, HG01173, HG01356, HG00536, NA19397, NA18861, NA18507, NA18596, NA18504, NA19684, NA18530, NA18959, NA18616, HG01051, HG00693, NA18627, HG00663, NA19068, NA19005, HG00589, NA18489, NA19728, NA19448, HG00689, HG00448, NA19723, NA20317, HG00610, NA18574, NA19088, NA18571, NA19054, NA19681, NA20291, NA19079, HG01069, NA18874, HG01495, NA19719, NA19371, NA19731, NA19317, HG00705, NA19189, NA19445, NA18908, NA18544, NA18605, NA19908, NA19247, HG00443, NA19347, NA18956, NA19327, HG00475, HG00556, NA19081, HG00500, NA18579, NA18534, HG00619, NA19064, HG01073, NA20299, HG00404, HG00531, NA19453, NA19009, NA18555, NA19682, NA19756, NA18570, NA18546, HG01148, NA18542, NA19390, NA18909, NA19108, NA18952, NA18559, HG00565, NA19072, NA19773, NA19835, NA19783, HG00662, NA19085, NA19818, NA19398, HG00513, NA20348, NA19248, NA19472, NA19779, NA19060, HG00656, NA20334, HG01254, NA19093, NA18609, NA19770, HG00698, NA19711, NA19213, NA18989, NA18488, HG01125, NA18623, HG01061, NA19431, NA18965, NA18577
Known GenesSNTG1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676293
Frequency
Sample Size1151
Observed Gain0
Observed Loss114
Observed Complex0
Frequencyn/a


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