A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv121e214



Internal ID20121544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46224802..46263254hg38UCSC Ensembl
chr10:47596038..47634490hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3838453
hg1938453
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3623129, esv3623130
SamplesHG01878, NA20903, HG03135, HG02477, NA20787, HG03760, 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, HG03796, 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, HG04194, NA12273, HG00315, NA07048, 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, NA18977, 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)dgv121e214
Frequency
Sample Size2504
Observed Gain160
Observed Loss0
Observed Complex0
Frequencyn/a


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