A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638911



Internal ID6679008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:68752755..68761780hg38UCSC Ensembl
chr16:68786658..68795683hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg389026
hg199026
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15501667, essv15501748, essv15501709, essv15501637, essv15501658, essv15501687, essv15501643, essv15501757, essv15501711, essv15501763, essv15501739, essv15501731, essv15501661, essv15501665, essv15501743, essv15501696, essv15501638, essv15501649, essv15501720, essv15501745, essv15501654, essv15501688, essv15501725, essv15501762, essv15501714, essv15501766, essv15501740, essv15501668, essv15501683, essv15501694, essv15501655, essv15501662, essv15501734, essv15501645, essv15501653, essv15501664, essv15501733, essv15501768, essv15501651, essv15501738, essv15501692, essv15501761, essv15501636, essv15501752, essv15501703, essv15501674, essv15501758, essv15501693, essv15501765, essv15501705, essv15501718, essv15501751, essv15501684, essv15501656, essv15501719, essv15501753, essv15501717, essv15501695, essv15501635, essv15501754, essv15501726, essv15501663, essv15501672, essv15501678, essv15501659, essv15501699, essv15501669, essv15501706, essv15501676, essv15501737, essv15501716, essv15501697, essv15501707, essv15501657, essv15501670, essv15501710, essv15501677, essv15501686, essv15501640, essv15501642, essv15501647, essv15501756, essv15501690, essv15501735, essv15501750, essv15501698, essv15501708, essv15501673, essv15501671, essv15501749, essv15501713, essv15501732, essv15501633, essv15501747, essv15501729, essv15501704, essv15501767, essv15501721, essv15501691, essv15501730, essv15501682, essv15501722, essv15501741, essv15501666, essv15501744, essv15501723, essv15501736, essv15501641, essv15501681, essv15501724, essv15501646, essv15501679, essv15501742, essv15501715, essv15501760, essv15501728, essv15501701, essv15501648, essv15501652, essv15501660, essv15501746, essv15501764, essv15501634, essv15501712, essv15501759, essv15501680, essv15501675, essv15501700, essv15501685, essv15501689, essv15501644, essv15501755, essv15501727, essv15501650, essv15501639, essv15501702
SamplesHG02879, HG03136, HG03370, NA20281, HG02808, NA19207, HG03135, HG03160, HG03121, NA19625, NA19026, HG01104, HG01896, NA18874, HG01342, HG03437, NA19093, HG02759, HG03247, NA19455, HG01079, NA19319, HG02979, HG03189, NA18516, NA19317, HG02952, NA19331, HG02722, HG03124, NA19920, HG03111, HG03048, HG02314, HG02497, NA18507, HG01958, NA19017, NA19257, NA19355, HG03199, HG03378, HG03109, HG02583, NA19467, HG03159, HG02308, NA19117, HG02836, HG02982, HG03461, HG03470, NA18934, NA19239, NA19314, NA19984, HG02009, HG02716, NA19020, NA19792, HG03442, HG02557, HG03241, NA19908, HG01501, HG03024, HG01879, NA18916, HG01247, HG03114, HG02756, HG02840, NA19377, HG02878, NA19189, HG03195, NA19374, NA18923, HG02461, HG03511, NA20334, HG02573, HG02429, HG02938, HG02971, NA18858, HG01889, NA19347, HG02771, NA19909, HG03428, HG02502, NA19131, HG03291, HG02536, HG03577, HG02614, HG03118, NA20355, HG02624, NA18907, HG02923, NA19391, HG03499, HG02645, NA18915, NA19025, HG03556, HG02628, NA20287, HG03078, HG02144, HG03198, NA19446, HG02561, NA19399, NA20359, HG03270, NA19315, NA19346, HG01985, HG02620, HG02813, NA18908, NA19185, NA19758, HG02013, HG02332, HG01890, HG02860, NA19385, NA19456, HG02820, HG02769, HG01067, NA19439
Known GenesCDH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638911
Frequency
Sample Size2504
Observed Gain136
Observed Loss0
Observed Complex0
Frequencyn/a


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