A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678148



Internal ID9944253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247991251..247992291hg38UCSC Ensembl
chr1:248154553..248155593hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381041
hg191041
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv111e199
Supporting Variantsessv6262113, essv6497796, essv5725588, essv6365040, essv5836366, essv6079153, essv6103327, essv6545858, essv5585185, essv6457729, essv6568404, essv6473675, essv6259666, essv6527594, essv5562533, essv5454575, essv6098041, essv5662239, essv6108590, essv6217779, essv6146732, essv5785682, essv6028846, essv6580899, essv6034415, essv5558509, essv6197605, essv6315752, essv6054298, essv5830876, essv5923258, essv6292093, essv6559775, essv6414074, essv6175030, essv6234183, essv5562329, essv5449106, essv5754499, essv6489429, essv5668090, essv6287575, essv5961998, essv6013412, essv6592541, essv5507340, essv6008518, essv5781690, essv6173869, essv5934484, essv6419647, essv5963384, essv5984970, essv5514756, essv6009060, essv5757426, essv5414351, essv6137508, essv6008074, essv5708064, essv6386574, essv6184341, essv6429333, essv6258064, essv5409281, essv6317557, essv5731633, essv5461121, essv5732674, essv6200868, essv5627369, essv5495729, essv6019540, essv6577248, essv5778350, essv5995280, essv6295444, essv6250049, essv6596325, essv6194686, essv6455516, essv5902643, essv5652698, essv5885143, essv5990557, essv6033441, essv6156756, essv5518292, essv6568962, essv5700896, essv6324444, essv6008538, essv6556206, essv5787489, essv5484773, essv5665417, essv5740537, essv5823775, essv5456548, essv6181412, essv6466993, essv6381974, essv6261167, essv6372225, essv5934140, essv5402536, essv6405130, essv5729511, essv6141971, essv5758214, essv5575767, essv5405482, essv6597154
SamplesHG00189, HG00442, HG00143, NA19909, HG00249, NA18599, HG01066, HG00151, HG00699, NA18530, HG00449, HG00654, NA19067, NA18988, HG00337, HG00271, NA19446, NA18550, NA19382, NA18595, HG00702, NA18982, NA18635, HG00330, NA18574, NA19904, HG00537, NA19079, HG00590, NA18611, NA20759, NA20518, HG00325, NA19917, NA18560, NA19075, NA18617, HG00427, NA19901, HG00530, HG00419, NA18539, HG00464, HG01353, HG00543, HG00154, HG00149, NA19247, HG00629, HG00443, HG00282, NA12342, NA19077, HG00653, HG00701, HG00657, HG00475, HG00436, NA19982, HG00533, HG00583, HG00344, NA19081, NA18579, HG00619, HG00708, HG00635, NA19064, HG01390, HG00324, HG00284, NA19461, HG00651, HG00404, HG00463, NA19395, NA18593, NA18541, HG00476, HG00285, NA18543, HG00625, NA12775, HG00565, NA18950, NA19010, NA19835, HG00607, HG00418, NA18610, NA19818, HG00672, HG00614, HG00578, HG00478, NA19438, HG00342, HG00174, HG00123, NA18636, NA19711, HG00252, HG00595, NA18984, NA19430, NA19004, HG00628, NA20754, NA19346, NA18622, NA18487, HG00437, NA18562
Known GenesOR2L13
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678148
Frequency
Sample Size1151
Observed Gain0
Observed Loss113
Observed Complex0
Frequencyn/a


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