A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv120e214



Internal ID20121543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46159786..46227801hg38UCSC Ensembl
chr10:47531022..47599037hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3868016
hg1968016
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3623127, esv3623126
SamplesHG01878, NA20903, HG03135, HG02477, NA20787, HG03064, NA18951, NA19321, NA20890, NA12342, NA07056, HG01205, HG00731, HG01444, HG03129, HG01506, NA18550, HG01098, HG02450, NA18948, NA12813, HG00117, HG02952, HG00368, NA19338, NA20362, HG01537, HG02508, HG00139, NA19461, HG01131, NA18546, NA21135, HG02471, HG01708, HG03103, HG03585, HG01344, HG01461, HG02760, HG03548, HG03538, HG00177, HG04094, HG03380, NA19355, NA20798, HG02805, NA20803, HG04106, HG00188, HG03863, NA19037, HG00353, NA18868, HG00290, HG04076, HG00244, HG02836, HG02982, NA18624, NA18934, NA19239, HG04188, HG02696, HG01672, NA18957, HG00096, NA20757, HG03686, NA20908, HG01398, HG02861, HG03787, NA12273, HG00315, NA07048, NA19908, HG03464, NA18959, NA21116, HG01360, HG01997, NA20520, HG00254, HG00982, HG01628, HG00343, NA19324, HG02224, HG02757, HG00742, NA12046, HG01465, NA19771, HG02019, HG01413, HG02054, HG00360, HG03209, HG01989, NA12778, HG03660, HG03753, NA12275, HG01121, HG02439, HG02807, HG00672, HG02501, NA18748, HG01676, NA19707, HG02586, NA19141, HG02570, HG03132, HG03385, NA18543, NA18940, HG00109, HG02309, HG03224, NA10851, HG03691, HG03237, HG04155, NA19794, HG01405, NA12749, HG01695, NA20332, NA20799, HG01632, HG01269, HG03694, NA19747, NA20318, HG01669, NA20507, NA20317, HG01485, HG01783, HG01886, HG03139, NA20904, HG03271, HG00684, HG02051, HG01890, HG00271, HG00278, HG02855, HG02095, HG03490, HG00531, HG01354, NA19922
Known GenesANTXRLP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv120e214
Frequency
Sample Size2504
Observed Gain158
Observed Loss0
Observed Complex0
Frequencyn/a


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