Variant Details

Variant: esv2678208

Internal ID

9944313

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr1:221085139..221090833	hg38	UCSC Ensembl
	chr1:221258481..221264175	hg19	UCSC Ensembl

Cytoband

1q41

Allele length

Assembly	Allele length
hg38	5695
hg19	5695

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv5576778, essv5721868, essv6002818, essv6249366, essv6208292, essv5743567, essv6397011, essv6550759, essv5747875, essv5928286, essv6263475, essv6236005, essv6515218, essv6455842, essv5638675, essv5408459, essv5411463, essv6242897, essv5523206, essv6012171, essv5662158, essv6452147, essv6366501, essv5600963, essv6485207, essv5900083, essv5429258, essv5862713, essv6231091, essv5756543, essv6570204, essv6058957, essv5492834, essv5913091, essv5947284, essv5615199, essv5925882, essv6458064, essv6445990, essv6425770, essv5973640, essv5848344, essv6305301, essv5655090, essv6589504, essv5467500, essv5801061, essv5602873, essv5889442, essv6313646, essv5899511, essv6535593, essv6327118, essv5834805, essv5710513, essv6445947, essv5605720, essv6113562, essv6224953, essv5856076, essv6391472, essv5432926, essv5482439, essv6063149, essv5529990, essv5809548, essv6232424, essv5802539, essv5412002, essv5752163, essv6399584, essv5936909, essv6441507, essv5567473, essv6421778, essv6052993, essv5743833, essv5792709, essv6305278, essv5566944, essv6519868, essv5808753, essv5977480, essv5521222, essv5909164, essv5492932, essv5492671, essv6106988, essv5945867, essv6235107, essv6261354, essv5755098, essv6078711, essv5750484, essv5725396, essv6290845, essv5452524, essv6202855, essv5625599, essv5420930, essv5689477, essv6282905, essv5514048, essv5634820, essv5786078, essv6376467, essv6364534, essv5898543, essv5754557, essv5406886, essv6182870, essv6094388, essv5671702, essv6176399, essv5751570, essv6527215, essv5494701, essv5965388, essv6544920, essv5887586, essv5440882, essv6020146, essv6354530, essv5866206, essv5832848, essv6192770, essv5431128, essv6267181, essv5807713, essv5498774, essv6389252, essv5815025, essv6587151, essv6133045, essv6178598, essv6022045, essv6401827, essv5753861, essv6332657, essv6046638, essv5615384, essv6529698, essv6008479, essv6255810, essv5489990, essv5542279, essv5565848, essv5904026, essv5689856, essv6079394, essv6300549, essv5855634, essv6481329, essv5635009, essv5851202, essv5679983, essv5632899, essv5721872, essv6207523, essv6068006, essv5538155, essv5583236, essv5480230, essv6109279, essv6352366, essv5602240, essv5997618, essv5824960, essv6126806, essv6290742, essv6400774, essv5702829, essv6091607, essv5829380, essv5899022, essv6491941, essv6049258, essv5987689, essv5621417, essv5856501, essv5629670, essv6582469, essv6476685, essv5984441, essv5867317, essv5602647, essv6351366, essv5721418, essv5819338, essv6132392

Samples

NA19676, HG00593, HG00626, HG00403, HG01060, HG00189, HG00442, NA19648, NA19700, HG01356, HG00143, NA19703, NA19909, HG00559, HG01052, HG00187, NA11920, HG01389, NA20802, NA12045, HG00318, HG00244, NA19350, NA19393, NA19777, HG01456, NA19684, HG00179, NA20346, HG01461, NA19443, NA12400, HG01051, NA20356, HG01250, HG00138, NA19373, NA19379, HG01366, HG00272, HG00122, NA19315, NA19762, NA20586, HG01168, NA19198, NA18567, NA20769, HG00634, HG00736, NA19062, NA19197, HG00346, HG01083, HG00334, NA19904, NA19384, NA20291, NA19404, HG01134, HG00281, NA20759, NA12275, HG01080, NA19383, HG00148, HG00236, NA18868, NA19917, NA20340, NA19372, NA19371, NA19385, HG00422, NA19317, HG01440, NA19722, NA18520, HG00637, HG00159, HG01048, NA19445, NA20127, NA18908, NA19985, HG00264, HG01124, HG00543, HG00313, HG00560, NA19247, HG00266, HG01187, HG00380, NA19707, HG00596, HG01384, NA19403, HG00557, NA12342, NA19462, NA19347, HG00653, HG00701, NA19391, NA18991, NA19717, HG00320, HG01498, NA20126, NA18630, HG00619, NA19776, NA19064, HG01390, NA20525, HG01073, NA19461, NA19774, HG00250, HG00331, HG00684, NA12249, NA19750, HG01101, NA19761, HG00152, NA19452, NA12778, HG00246, NA18634, HG01107, NA20534, NA19375, NA19729, HG00476, NA18533, NA19834, NA19256, NA18559, NA20276, NA19712, NA12775, HG00565, NA19072, HG00580, HG00375, HG01253, HG00136, HG00278, HG01357, HG00098, NA19334, NA19679, NA19311, NA19786, HG01137, HG01108, NA20281, NA19360, HG00418, NA18615, HG00707, HG00672, HG00614, HG00513, HG01491, NA19779, HG00174, HG00123, HG00186, NA20807, HG00280, NA20826, NA19780, NA19213, HG00343, NA18552, NA18983, HG01377, NA07056, NA18989, NA19004, NA18488, HG01125, HG00171, NA20322, NA19063, NA18522, HG00180

Known Genes

Method

Merging

Analysis

No reference, merging analysis

Platform

Merging

Comments

High quality site

Reference

1000_Genomes_Consortium_Phase_1

Pubmed ID

23128226

Accession Number(s)

esv2678208

Frequency

Sample Size	1151
Observed Gain	0
Observed Loss	190
Observed Complex	0
Frequency	n/a