A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660553



Internal ID9926658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40117179..40119395hg38UCSC Ensembl
chr19:40623086..40625302hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg382217
hg192217
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6229290, essv5734796, essv6061920, essv6468131, essv5687095, essv6539755, essv6115310, essv5740010, essv6504120, essv5823954, essv5989085, essv5860703, essv5599092, essv6512656, essv5859838, essv5767997, essv6186019, essv6335826, essv5480930, essv6556793, essv5436549, essv6045636, essv6216696, essv6356538, essv5996082, essv5755275, essv5726640, essv5901841, essv6367489, essv6413139, essv6384186, essv6026833, essv6058474, essv5724863, essv6024415, essv5973982, essv6124014, essv5929968, essv5507101, essv6329512, essv5521951, essv5903720, essv5421593, essv6003506, essv6331900, essv5617565, essv6508017, essv6217381, essv6404985, essv6074927, essv5532785, essv5676757, essv5542772, essv6447025, essv6355817, essv6457598, essv6258443, essv6156924, essv5928943, essv5402014, essv6533792, essv5516233, essv6453272, essv6370393, essv5774646, essv6391375, essv6595312, essv5981980, essv5933165, essv6248252, essv5700563, essv5525840, essv5955508, essv6494133, essv5589532, essv6298685, essv5838317, essv6454499, essv6167210, essv6268580, essv5483922, essv6030765, essv6519675, essv5865011, essv5847344, essv5713769, essv5669119, essv5671887, essv6549108, essv5805417, essv6598041, essv6558009, essv6282097, essv5947640, essv6278600, essv6549711, essv6071990, essv5796259, essv5553168, essv5675808, essv5925763, essv5978313, essv6564483, essv6053780, essv5662594, essv6326638, essv6364104, essv6206835, essv6507657, essv6518710, essv6467173, essv5659097, essv5552791, essv6597166, essv5674796, essv6459893, essv6161554, essv6390514, essv5436282
SamplesHG00626, HG00592, NA18924, HG00608, HG00671, NA19066, HG00559, NA19399, HG00257, NA18596, NA18530, NA20346, NA18616, HG00449, HG01051, NA18550, HG01070, HG00251, NA19319, HG00448, NA20774, NA19198, NA18567, NA19088, HG00369, NA20291, NA18611, NA20518, NA18868, NA19075, NA19172, HG00422, NA19002, HG00427, NA19239, NA18985, NA18638, HG01124, NA20818, NA18614, HG00543, NA18544, NA18605, NA19908, HG00731, HG00443, NA18538, HG01171, NA19070, NA19056, HG00557, NA19077, HG00428, HG00653, HG00577, HG00701, NA20536, NA19236, HG00556, HG00584, HG00533, HG00583, NA19081, HG00708, HG00635, NA19064, NA19654, HG01102, NA19461, NA19114, HG00651, NA18626, HG00531, HG00525, NA18853, NA19338, NA19009, NA18555, NA20828, NA19469, NA18541, HG01148, NA19375, NA19003, NA19652, NA18535, NA18961, NA18543, NA18559, HG00625, NA19712, HG00565, HG00580, NA19240, HG00473, NA19467, NA19083, HG01108, NA20803, HG00662, HG00418, NA18615, NA18610, NA19376, HG00672, HG00578, NA19716, NA18636, HG00186, NA19080, NA19711, NA20503, NA19312, NA20322, NA18624, NA19463, HG00581, NA18577, NA18620
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660553
Frequency
Sample Size1151
Observed Gain0
Observed Loss119
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer