Variant Details

Variant: esv2670650

Internal ID

9590069

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr12:1328824..1329444	hg38	UCSC Ensembl
	chr12:1437990..1438610	hg19	UCSC Ensembl

Cytoband

12p13.33

Allele length

Assembly	Allele length
hg38	621
hg19	621

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6093316, essv6049866, essv5921234, essv6410563, essv6355259, essv6403477, essv5885069, essv5623964, essv5934659, essv5928264, essv5945527, essv6452591, essv5795632, essv5745536, essv5461288, essv6434538, essv6582977, essv6490217, essv5860949, essv5886138, essv5569450, essv6548471, essv6318671, essv5663488, essv6061559, essv6528704, essv6462700, essv6128820, essv5773833, essv5864196, essv5804834, essv5591343, essv6121654, essv6317415, essv6181841, essv5949442, essv6446345, essv6273519, essv5574360, essv6331075, essv5858678, essv5778954, essv6187967, essv6062638, essv5548851, essv6272848, essv6302555, essv6295271, essv6131219, essv5476762, essv5658433, essv6410571, essv5922723, essv5799610, essv5745779, essv6547234, essv5471488, essv6265375, essv6538559, essv5828556, essv5680819, essv6306753, essv5621851, essv6338323, essv5871988, essv6481246, essv6188640, essv5780297, essv5906013, essv6075668, essv5760833, essv5613511, essv6075568, essv6179365, essv6202901, essv6450154, essv5453914, essv5708243, essv6275581, essv6008236, essv5813803, essv6533009, essv5561959, essv5438391, essv6181231, essv6419182, essv5408435, essv5812552, essv6082815, essv5397053, essv6557698, essv6134373, essv5459065, essv6532789, essv5815477, essv5853091, essv6259432, essv5721591, essv6031510, essv6233820, essv5870756, essv5572712, essv6475760, essv5462400, essv5575582, essv5760556, essv5721015, essv5523806, essv5609965, essv5451451, essv5805288, essv5808211, essv6577036, essv5907082, essv5585308, essv6220328, essv6198628, essv5903553, essv5744062, essv6382556, essv6000744, essv6207738, essv6583928, essv6503751, essv5520935, essv5524100, essv6514088, essv5696465, essv6263700, essv6100180, essv6408867, essv6404982, essv6451130, essv5577624, essv6077382, essv5767027, essv5636992, essv5647451, essv5425686, essv6489204, essv5916205, essv6254912, essv6497651, essv6235353, essv6461882, essv6405987, essv6096818, essv5415982, essv6093953, essv5422293, essv5964981, essv5586149, essv5488656, essv5876973, essv5598734, essv5419185, essv6141007, essv5991963, essv6407918, essv5682801, essv5621881, essv5889261, essv6361417, essv5894171, essv5614537, essv5520527, essv5786644, essv5751683, essv6034355, essv6148444, essv6037659, essv5490295, essv6261215, essv6083599, essv5922437, essv5603139, essv6300140, essv6204903, essv5503530, essv5762097, essv6019964, essv6508994, essv6177561, essv6544430, essv5997189, essv6218381, essv5693906, essv5484385, essv5997541, essv5642308, essv5659879, essv5729639, essv5540934, essv5778312, essv6260893, essv5956311, essv5684148, essv6278582, essv6099787, essv5764402, essv5738812, essv6021467, essv5861699, essv5873371, essv6261762, essv5797309, essv6574316, essv6145551, essv6349273

Samples

HG00323, HG01357, NA20281, NA19012, NA18621, NA12154, NA19152, HG00152, HG00734, NA19436, HG00536, HG00607, NA20787, NA19904, NA18530, NA18535, NA18871, NA20785, HG00100, NA18561, HG00551, NA12342, HG00145, NA11920, NA18612, HG00131, NA20544, NA20346, HG00707, NA18511, NA19455, NA06989, HG01079, NA18603, NA20294, HG01389, NA20296, NA19430, HG01197, NA18516, NA20808, NA18953, NA19451, HG00475, HG00542, NA19449, NA18573, NA18608, HG00148, NA20778, HG00139, HG00190, NA18546, NA19210, HG01167, NA12058, HG00683, HG00111, NA18963, NA19685, HG00404, HG00557, NA19108, NA19474, NA18557, NA12287, HG01171, NA18626, NA18949, NA20340, HG00247, HG00256, NA19077, HG00543, NA18559, NA12843, NA18627, HG00593, HG00472, HG00583, NA12004, NA18635, NA19917, NA20811, HG00638, NA12155, NA18622, NA18960, NA07357, NA20757, NA18990, HG00692, HG01183, HG00689, NA18636, NA19396, HG01124, NA19083, NA18638, HG00338, HG00533, HG01360, NA19256, NA20282, NA18593, NA18982, NA19681, NA19056, NA19700, HG00343, NA12144, NA19082, HG00662, NA19324, NA20773, NA19190, HG00267, NA19785, NA18537, NA18620, NA19129, NA18633, NA18572, NA19374, NA19703, NA19375, NA20126, NA19373, HG00325, HG00629, NA12348, NA18986, NA19657, NA18558, NA18941, HG00672, NA18504, NA20818, HG00478, NA11892, NA18564, NA18942, HG00116, NA19332, HG00513, NA18562, NA19074, NA18579, NA18985, NA19462, HG01149, HG00120, NA18543, NA18940, NA18619, NA10851, NA18582, NA18597, HG00595, NA19376, NA20534, NA18599, NA18909, NA19391, NA19723, NA19078, NA19201, HG00611, NA20332, NA20799, NA06984, HG00663, NA19116, HG00262, NA18989, NA18544, HG00311, HG00608, HG00654, NA19452, NA18533, NA18548, NA20317, NA18944, NA19225, NA19327, NA18917, NA19717, HG00656, NA18499, NA19371, HG00708, NA19315, HG00566, HG01177, NA18532, NA18549, NA18574, HG00626, HG00671, NA20772, NA19468, HG00704, NA18555, NA19661, NA18519, NA19065, NA18980, NA19439

Known Genes

ERC1

Method

Merging

Analysis

No reference, merging analysis

Platform

Merging

Comments

Reference

1000_Genomes_Consortium_Phase_1

Pubmed ID

23128226

Accession Number(s)

esv2670650

Frequency

Sample Size	1151
Observed Gain	0
Observed Loss	209
Observed Complex	0
Frequency	n/a