A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657628



Internal ID9577047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132952330..133105436hg38UCSC Ensembl
Outerchr12:132951959..133105806hg38UCSC Ensembl
Innerchr12:133528916..133682022hg19UCSC Ensembl
Outerchr12:133528545..133682392hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38153848
hg19153848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv330e199
Supporting Variantsessv6196075, essv5733840, essv5467581, essv5418466, essv5662737, essv5588239, essv5846676, essv6438705, essv5501534, essv5683842, essv5776450, essv6412966, essv6577028, essv6429748, essv5482004, essv5947799, essv6409222, essv5715832, essv6336150, essv6364325, essv6392994, essv6061430, essv5445467, essv5461100, essv5675126, essv6192513, essv6201220, essv6153370, essv5653449, essv6396158, essv5642691, essv5726277, essv5948198, essv6526434, essv5992768, essv6267823, essv6193434, essv6405967, essv5730511, essv6046253, essv6307856, essv6426322, essv6399600, essv6195926, essv6061994, essv5829168, essv5837575, essv6463558, essv6014640, essv6038097, essv5850502, essv5505421, essv6251403, essv6469291, essv5828337, essv5667489, essv6555154, essv5633738, essv5619695, essv5600971, essv6495758, essv5920257, essv6449584, essv5604033, essv5896954, essv5475114, essv5858344, essv5407803, essv5771406, essv5491514, essv6283705, essv5554080, essv5807384, essv6095642, essv6422461, essv6269231, essv5660722, essv5763341, essv5541721, essv6130739, essv6179183, essv5792834, essv6222030, essv5979871, essv6496837, essv5413794, essv6448577, essv6345303, essv5676210, essv6004410, essv5824395, essv5601760
SamplesHG00593, HG00626, HG00403, HG00650, HG00542, HG00442, HG00592, 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, HG00464, 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, HG00698, HG00595, HG00472, HG00628, HG00437, HG00581
Known GenesZNF140, ZNF26, ZNF605, ZNF84
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657628
Frequency
Sample Size1151
Observed Gain0
Observed Loss92
Observed Complex0
Frequencyn/a


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