A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646972



Internal ID6687028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:36484989..36485338hg38UCSC Ensembl
Innerchr21:36484989..36485338hg38UCSC Ensembl
Outerchr21:36484523..36485668hg38UCSC Ensembl
chr21:37857287..37857636hg19UCSC Ensembl
Innerchr21:37857287..37857636hg19UCSC Ensembl
Outerchr21:37856821..37857966hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg38350
hg19350
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16319700, essv16319607, essv16319616, essv16319640, essv16319597, essv16319672, essv16319676, essv16319666, essv16319651, essv16319689, essv16319579, essv16319645, essv16319715, essv16319643, essv16319647, essv16319661, essv16319612, essv16319705, essv16319596, essv16319621, essv16319682, essv16319638, essv16319667, essv16319650, essv16319720, essv16319697, essv16319694, essv16319613, essv16319662, essv16319718, essv16319573, essv16319622, essv16319660, essv16319656, essv16319678, essv16319603, essv16319610, essv16319701, essv16319671, essv16319704, essv16319615, essv16319652, essv16319716, essv16319709, essv16319706, essv16319589, essv16319670, essv16319575, essv16319648, essv16319632, essv16319698, essv16319604, essv16319628, essv16319586, essv16319664, essv16319649, essv16319673, essv16319630, essv16319641, essv16319658, essv16319686, essv16319631, essv16319657, essv16319623, essv16319717, essv16319710, essv16319637, essv16319713, essv16319655, essv16319634, essv16319611, essv16319702, essv16319574, essv16319659, essv16319712, essv16319625, essv16319633, essv16319595, essv16319685, essv16319639, essv16319644, essv16319654, essv16319703, essv16319692, essv16319585, essv16319598, essv16319599, essv16319683, essv16319707, essv16319578, essv16319663, essv16319675, essv16319590, essv16319588, essv16319600, essv16319695, essv16319584, essv16319669, essv16319684, essv16319674, essv16319665, essv16319691, essv16319620, essv16319627, essv16319642, essv16319629, essv16319605, essv16319602, essv16319668, essv16319591, essv16319679, essv16319576, essv16319693, essv16319688, essv16319581, essv16319606, essv16319646, essv16319681, essv16319583, essv16319680, essv16319582, essv16319636, essv16319601, essv16319594, essv16319719, essv16319653, essv16319687, essv16319614, essv16319699, essv16319714, essv16319618, essv16319677, essv16319624, essv16319577, essv16319592, essv16319690, essv16319608, essv16319593, essv16319580, essv16319711, essv16319626, essv16319617, essv16319619, essv16319708, essv16319635, essv16319609, essv16319587, essv16319696
SamplesHG01441, HG03963, HG01359, HG01768, HG02291, HG03705, NA19031, NA20514, HG02272, HG01700, NA20503, HG02597, NA20866, HG01918, HG03631, HG00129, HG00350, HG01941, HG03886, HG02727, NA20796, NA20535, HG01927, HG01624, HG03643, HG03896, HG02783, HG04090, NA20808, HG02652, HG02010, NA19782, HG02105, HG00139, HG01704, HG01182, HG01679, HG03680, HG00111, HG01920, HG02277, HG02274, NA19648, HG04002, NA19678, NA19682, HG02232, HG03949, NA20755, HG01950, HG01968, HG01504, NA20340, HG00244, HG01917, HG02312, HG01550, NA20761, HG00242, NA11919, NA20533, HG00371, NA21111, HG03736, HG04144, HG03672, NA21097, HG00240, HG02221, NA20908, HG01360, HG03887, NA19684, HG03780, NA12751, NA20769, HG03773, HG00159, HG01948, HG03786, HG01097, NA19785, NA19771, HG04141, NA12778, HG01271, NA21112, NA19657, NA19731, HG01073, HG01281, HG03619, HG01786, NA11892, HG01139, HG01351, HG02147, NA18613, HG03733, NA19720, HG01630, HG03645, HG01447, HG01509, HG01702, NA21092, HG04134, HG02299, HG03943, HG01779, HG01973, HG03772, NA12749, HG01939, HG01632, HG01953, HG04019, HG03771, HG03702, HG00378, NA20513, HG02687, HG01783, HG03890, HG00142, HG01323, HG01951, NA19752, NA12045, NA11829, HG01791, HG01892, NA12874, HG01489, HG03885, NA06994, NA12760, HG01932, NA19661, NA19779, HG01602, HG00136, HG02215, HG02425, HG03824, HG00126, HG01536, HG01578
Known GenesCLDN14
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646972
Frequency
Sample Size2504
Observed Gain0
Observed Loss148
Observed Complex0
Frequencyn/a


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