A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678723



Internal ID9598142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1908725..1908889hg38UCSC Ensembl
chr12:2017891..2018055hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38165
hg19165
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
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678723
Frequency
Sample Size1151
Observed Gain0
Observed Loss70
Observed Complex0
Frequencyn/a


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