A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673473



Internal ID9592892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:47500010..47587479hg38UCSC Ensembl
Outerchr10:47500010..47587849hg38UCSC Ensembl
Innerchr10:48896616..48986422hg19UCSC Ensembl
Outerchr10:48896245..48986792hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3887840
hg1990548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv137e199
Supporting Variantsessv5863583, essv5670177, essv6547106, essv5427637, essv5892013, essv6268629, essv6074118, essv5734758, essv5615570, essv6522738, essv6218289, essv6483926, essv6595255, essv5684520, essv5416964, essv6478556, essv6350668, essv6330640, essv5589853, essv5665903, essv6516756, essv6317537, essv6487396, essv6282825, essv6360881, essv5489460, essv6416741, essv6069307, essv6211916, essv5884736, essv5718635, essv6564046, essv6237968, essv6481671, essv5629376, essv6505971, essv5849585, essv5649699, essv6332398, essv6366520, essv6393418, essv5449159, essv5629389, essv5615235, essv5660272, essv5431858, essv6124145, essv5557412, essv5606509, essv6137684, essv5500715, essv5409092, essv6134065, essv5749928, essv6562875, essv6244153, essv6063877, essv5626200, essv6258240, essv5695983, essv6064979, essv5650930, essv6546941, essv6095863, essv6037550, essv5812277, essv5837773, essv5454856, essv6317494, essv5885795, essv5973079, essv5758839, essv5553578, essv5412598, essv5433404, essv5537101, essv6153592, essv5643196, essv6264926, essv5817136, essv6073091, essv5666675, essv6458928, essv5709031, essv5444459, essv5802951, essv6376514, essv5785338
SamplesHG00403, HG00650, HG00542, HG00442, HG00536, HG00608, HG00671, HG00559, HG00524, HG00699, HG00566, HG00449, HG00654, HG00693, HG00663, HG00589, HG00501, HG00702, HG00689, HG00448, HG00634, HG00610, HG00537, HG00590, HG00512, HG00683, HG00534, HG00422, HG00705, HG00427, HG00530, HG00419, HG00543, HG00560, HG00629, HG00443, HG00596, HG00557, HG00428, HG00653, HG00577, HG00701, HG00657, HG00475, HG00436, HG00556, HG00584, HG00533, HG00583, HG00500, HG00619, HG00708, HG00692, HG00635, HG00651, HG00690, HG00404, HG00531, HG00479, HG00684, HG00613, HG00525, HG00704, HG00463, HG00611, HG00476, HG00625, HG00565, HG00580, HG00473, HG00607, HG00662, HG00418, HG00620, HG00707, HG00672, HG00614, HG00513, HG00578, HG00478, HG00421, HG00656, HG00595, HG00472, HG00628, HG00437, HG00581, HG00593
Known GenesBMS1P1, BMS1P5, GLUD1P7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673473
Frequency
Sample Size1151
Observed Gain0
Observed Loss88
Observed Complex0
Frequencyn/a


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