A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2678723

Internal ID9598142
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1908725..1908889hg38UCSC Ensembl
chr12:2017891..2018055hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6386974, essv5549744, essv5748284, essv6165507, essv5540234, essv5770403, essv5599409, essv5859182, essv5506345, essv5680201, essv5638490, essv6300571, essv5851633, essv6351196, essv5907052, essv5608797, essv5440599, essv6213442, essv6369296, essv5770660, essv6096386, essv6481325, essv5882333, essv6467655, essv5845351, essv5789669, essv5593550, essv5453188, essv5702547, essv5460935, essv6506954, essv6595244, essv6350652, essv5813074, essv6571013, essv6061985, essv6517741, essv5681116, essv6342855, essv5956591, essv5728837, essv6065560, essv6512935, essv6547919, essv6523330, essv5652501, essv6205086, essv5814948, essv5810397, essv6431595, essv5951545, essv6037451, essv5975438, essv5467290, essv6211284, essv6598188, essv5663663, essv5830476, essv5719408, essv5576151, essv6477302, essv6125392, essv5883457, essv6406754, essv5900237, essv6411304, essv6586907, essv5495162, essv5730782, essv6252860
SamplesHG00613, NA19312, HG00607, NA18595, HG01072, NA18561, NA19404, NA18612, HG00464, HG00310, NA18570, NA19072, HG00261, HG01389, HG00463, HG00614, HG01365, HG01082, HG00428, HG00475, HG00542, HG01350, HG00698, HG00111, HG00334, HG00581, HG00557, HG00699, NA18557, HG00543, NA18559, HG00556, NA19428, NA18624, NA18622, NA18623, HG00692, NA18636, NA19396, NA19397, NA18637, HG00284, NA19457, HG00662, HG00436, NA19360, NA18620, NA19375, HG00478, NA18562, HG00589, NA18606, NA18543, NA18940, HG00443, HG00650, NA19394, HG00663, HG00580, HG01390, HG00656, HG00708, HG00693, NA18611, HG00690, NA18532, HG00442, HG00671, HG00702, HG00704
Known GenesCACNA2D4
AnalysisNo reference, merging analysis
Pubmed ID23128226
Accession Number(s)esv2678723
Sample Size1151
Observed Gain0
Observed Loss70
Observed Complex0

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