Variant Details

Variant: esv3611849

Internal ID

6652064

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr7:2691075..2691658	hg38	UCSC Ensembl
Inner	chr7:2691076..2691658	hg38	UCSC Ensembl
Outer	chr7:2691075..2691659	hg38	UCSC Ensembl
	chr7:2730709..2731292	hg19	UCSC Ensembl
Inner	chr7:2730710..2731292	hg19	UCSC Ensembl
Outer	chr7:2730709..2731293	hg19	UCSC Ensembl

Cytoband

7p22.3

Allele length

Assembly	Allele length
hg38	584
hg19	584

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv12668827, essv12668653, essv12668708, essv12668700, essv12668587, essv12668661, essv12668610, essv12668766, essv12668689, essv12668795, essv12668775, essv12668794, essv12668816, essv12668635, essv12668554, essv12668533, essv12668825, essv12668692, essv12668566, essv12668790, essv12668580, essv12668568, essv12668751, essv12668622, essv12668719, essv12668530, essv12668781, essv12668697, essv12668830, essv12668756, essv12668644, essv12668636, essv12668798, essv12668639, essv12668619, essv12668801, essv12668545, essv12668632, essv12668535, essv12668531, essv12668758, essv12668721, essv12668588, essv12668542, essv12668810, essv12668746, essv12668584, essv12668780, essv12668543, essv12668696, essv12668669, essv12668564, essv12668806, essv12668738, essv12668729, essv12668847, essv12668690, essv12668562, essv12668826, essv12668784, essv12668581, essv12668818, essv12668571, essv12668813, essv12668748, essv12668637, essv12668823, essv12668714, essv12668837, essv12668802, essv12668547, essv12668634, essv12668620, essv12668728, essv12668617, essv12668607, essv12668763, essv12668673, essv12668608, essv12668546, essv12668552, essv12668663, essv12668604, essv12668814, essv12668791, essv12668572, essv12668834, essv12668613, essv12668688, essv12668681, essv12668602, essv12668839, essv12668699, essv12668563, essv12668764, essv12668744, essv12668570, essv12668705, essv12668628, essv12668591, essv12668569, essv12668698, essv12668732, essv12668633, essv12668555, essv12668685, essv12668725, essv12668808, essv12668820, essv12668675, essv12668750, essv12668660, essv12668532, essv12668621, essv12668652, essv12668812, essv12668713, essv12668615, essv12668614, essv12668585, essv12668658, essv12668754, essv12668815, essv12668561, essv12668600, essv12668595, essv12668718, essv12668686, essv12668679, essv12668835, essv12668667, essv12668612, essv12668576, essv12668771, essv12668702, essv12668762, essv12668757, essv12668579, essv12668822, essv12668772, essv12668747, essv12668616, essv12668711, essv12668642, essv12668641, essv12668788, essv12668650, essv12668759, essv12668557, essv12668574, essv12668793, essv12668651, essv12668782, essv12668655, essv12668618, essv12668596, essv12668626, essv12668736, essv12668623, essv12668712, essv12668578, essv12668649, essv12668731, essv12668792, essv12668741, essv12668778, essv12668787, essv12668680, essv12668739, essv12668677, essv12668723, essv12668694, essv12668745, essv12668710, essv12668733, essv12668809, essv12668828, essv12668805, essv12668783, essv12668550, essv12668678, essv12668803, essv12668625, essv12668630, essv12668575, essv12668551, essv12668846, essv12668645, essv12668716, essv12668672, essv12668583, essv12668773, essv12668544, essv12668761, essv12668737, essv12668668, essv12668845, essv12668703, essv12668609, essv12668592, essv12668796, essv12668821, essv12668753, essv12668599, essv12668701, essv12668691, essv12668776, essv12668594, essv12668537, essv12668627, essv12668605, essv12668774, essv12668536, essv12668709, essv12668832, essv12668769, essv12668611, essv12668785, essv12668742, essv12668665, essv12668838, essv12668684, essv12668539, essv12668559, essv12668704, essv12668824, essv12668666, essv12668841, essv12668654, essv12668730, essv12668624, essv12668734, essv12668715, essv12668603, essv12668817, essv12668770, essv12668560, essv12668670, essv12668777, essv12668720, essv12668556, essv12668548, essv12668800, essv12668565, essv12668643, essv12668695, essv12668687, essv12668541, essv12668629, essv12668829, essv12668598, essv12668631, essv12668582, essv12668717, essv12668755, essv12668601, essv12668799, essv12668707, essv12668735, essv12668674, essv12668534, essv12668843, essv12668779, essv12668804, essv12668811, essv12668567, essv12668657, essv12668549, essv12668833, essv12668577, essv12668693, essv12668706, essv12668586, essv12668743, essv12668842, essv12668640, essv12668589, essv12668682, essv12668529, essv12668553, essv12668538, essv12668722, essv12668786, essv12668760, essv12668676, essv12668573, essv12668597, essv12668768, essv12668638, essv12668664, essv12668646, essv12668671, essv12668844, essv12668590, essv12668726, essv12668831, essv12668836, essv12668558, essv12668767, essv12668659, essv12668593, essv12668540, essv12668740, essv12668727, essv12668840, essv12668647, essv12668797, essv12668752, essv12668606, essv12668807, essv12668683, essv12668724, essv12668749, essv12668765, essv12668528, essv12668819, essv12668789, essv12668656, essv12668662, essv12668648

Samples

NA19394, NA18502, HG02574, NA19701, NA20339, NA19028, HG01402, HG02496, HG03484, HG01624, NA18508, NA19378, HG04158, HG01602, HG03247, HG03717, HG02419, HG02836, HG02798, HG04076, HG03115, HG02691, NA19355, NA18878, HG02624, NA20332, NA19377, HG03126, HG03193, HG02589, HG03372, NA20356, HG03069, NA19446, HG03133, HG03603, NA19379, NA18519, HG03168, NA19315, HG03452, HG02952, NA20320, HG01167, NA19307, HG03091, HG02840, HG03913, NA18916, HG03342, NA19457, HG03224, NA20291, HG02981, NA19041, HG02634, NA19372, NA19238, NA19235, HG02642, NA19172, HG02588, NA19036, HG03380, HG02427, HG03073, NA20127, HG03649, HG03394, HG01967, NA19027, HG02879, HG02820, NA19908, HG03685, HG03511, HG03088, NA19175, NA18933, NA20760, HG02144, HG03575, NA20875, HG03159, HG04177, HG02878, HG01889, HG00740, HG03301, NA20867, HG03730, NA18879, HG01762, HG02577, HG03388, NA18912, HG02881, HG03451, HG03046, HG02666, HG02256, NA19318, HG02635, NA19395, HG02568, HG02675, HG02722, HG02772, HG02330, HG04025, NA19440, NA19390, NA19149, NA19147, HG03539, HG02010, NA19019, HG03695, HG01685, HG02304, NA19331, HG01357, NA18865, HG02982, HG03869, HG03469, NA19428, NA20281, NA19360, HG01342, HG03779, NA20897, NA19328, NA18501, HG03097, HG03716, NA19102, NA18873, NA18876, HG03872, HG03077, NA19121, HG02947, NA19316, NA19312, HG02851, HG02805, HG03198, HG02643, HG03955, HG03303, NA19429, NA21120, HG03271, HG02760, HG03096, HG01413, NA19141, HG03366, NA19222, HG02610, HG02583, NA19466, NA11995, HG03163, NA19914, NA19704, HG01280, HG01188, NA19020, NA20321, HG02870, HG03280, HG02476, HG03190, NA19393, HG03100, HG03297, NA20808, NA19314, NA12413, HG03074, NA19374, HG03135, NA18489, HG01064, HG02485, HG02549, NA19131, HG03105, NA19023, HG03911, NA21103, HG02922, NA19038, HG03460, NA19383, HG03189, HG02490, HG02573, NA19719, NA20340, HG02885, HG03195, NA19471, NA19317, NA21107, HG01440, NA19159, NA19026, NA20884, HG03225, HG02946, HG00637, NA18864, NA19456, NA19445, HG02882, HG03369, NA19200, HG03048, HG02819, HG02009, HG01784, HG01139, HG02570, HG03054, NA19437, NA18934, HG02334, HG02582, NA19347, NA19152, HG03760, HG03547, HG04107, HG02511, NA20536, NA19391, HG01088, HG02554, NA20126, NA18910, HG02968, HG02102, HG02470, HG02976, HG02537, HG02757, HG03021, HG01390, HG01392, NA19114, HG03871, NA19118, NA19449, HG03382, HG03202, NA20881, HG02283, NA18853, HG03571, NA19338, NA19257, HG02585, HG03354, HG03991, HG03109, NA19035, HG02813, HG02255, NA19401, NA19308, NA19206, HG03833, HG03028, HG02807, HG03461, HG02799, HG02759, NA19473, HG02696, HG01894, NA19435, HG00638, HG01958, HG02923, NA19380, HG02314, NA19334, HG03127, HG01494, HG01205, NA19439, NA19310, NA19475, HG03084, NA19818, NA19323, HG02974, HG03442, NA19472, HG03863, HG03049, HG02938, HG02053, HG03258, HG03410, NA19096, HG01883, HG02861, HG01464, NA18505, NA19146, NA18488, HG02465, NA21104, HG03118, HG02343, HG02006

Known Genes

AMZ1

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3611849

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	320
Observed Complex	0
Frequency	n/a