Variant Details

Variant: esv2675404

Internal ID

9941509

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr12:128188715..128189380	hg38	UCSC Ensembl
Outer	chr12:128188676..128189437	hg38	UCSC Ensembl
Inner	chr12:128673260..128673925	hg19	UCSC Ensembl
Outer	chr12:128673221..128673982	hg19	UCSC Ensembl

Cytoband

12q24.32

Allele length

Assembly	Allele length
hg38	762
hg19	762

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6233856, essv5503553, essv5827615, essv5450631, essv6516179, essv5883672, essv6432840, essv6572560, essv6160899, essv6254084, essv5449239, essv6501639, essv5510901, essv5851698, essv5444973, essv6306296, essv5768421, essv5928940, essv6082008, essv5417299, essv6131019, essv6416240, essv6139400, essv6109649, essv6545915, essv6075237, essv5519902, essv6426723, essv5884074, essv5548312, essv6324470, essv5570882, essv6104914, essv5793035, essv5760920, essv6433139, essv6492952, essv6517596, essv5753494, essv5414533, essv6536865, essv5440656, essv5684969, essv6521399, essv5696841, essv5567328, essv5544276, essv6477220, essv6397780, essv6141031, essv5779771, essv6180994, essv5609777, essv6000601, essv5929455, essv5553034, essv6574362, essv6138554, essv6469435, essv6421346, essv6508563, essv5469048, essv6109432, essv6066480, essv6461466, essv6350806, essv6227403, essv6284681, essv6362985, essv5652767, essv5752560, essv5465073, essv5592796, essv5619697, essv6333171, essv5415034, essv6062081, essv5534107, essv6305590, essv5660534, essv6528955, essv6519596, essv6263263, essv5772694, essv5448306, essv5898036, essv6068394, essv5828199, essv6318627, essv5597909, essv6076666, essv6178323, essv5852546, essv6423798, essv5781139, essv6001266, essv5508167, essv6532272, essv5983325, essv6502416, essv5997753, essv6112561, essv5427923, essv6019918, essv5746528, essv6271145, essv5525105, essv5855092, essv6235965, essv5597197, essv6147912, essv5911120, essv6194230, essv6103063, essv6214591, essv5780735, essv6168403, essv6082994, essv6574335, essv5744304, essv6595963, essv6486761, essv5559622, essv6232569, essv6475238, essv6042659, essv5931543, essv6500523, essv6421281, essv6356012, essv6032940, essv6411846, essv6192442, essv5683609, essv5397373, essv6462215, essv5441033, essv6590969, essv6157800, essv5477762

Samples

HG00189, HG00114, HG01521, NA19055, HG00231, HG01462, NA19466, HG00671, HG00361, NA19399, NA12273, HG00187, NA18980, HG01188, HG01374, HG00306, NA19350, NA20294, NA19355, NA19393, NA20805, NA19057, NA20517, HG00654, NA20356, NA12155, NA18988, NA19374, NA19068, HG00641, NA19381, NA19005, HG01366, HG00589, HG00501, NA18489, HG01488, NA19198, NA18618, NA19649, NA19062, HG00369, HG01365, NA19782, NA19681, HG01110, NA19651, HG01067, HG00120, HG00148, NA06984, HG01170, HG00236, NA18977, NA19172, NA19471, HG01176, NA18986, HG01440, HG00182, NA19002, NA19901, HG00160, HG00338, HG01048, NA19445, NA19451, HG00464, HG01124, NA18614, HG01353, HG00133, HG00149, HG00731, NA19657, HG01360, HG00176, HG00328, NA19462, HG00732, HG00701, NA19391, HG00368, NA19717, NA20314, HG00436, HG00533, HG00500, NA19788, NA19658, HG00239, HG01390, HG01047, NA19774, NA19449, NA19084, HG00690, HG00373, NA18532, HG00140, NA18553, HG01497, NA18963, HG00704, NA20534, HG00265, NA19072, NA19331, HG00278, NA19773, HG01357, HG00098, HG00308, HG00237, NA19428, NA19311, HG00319, HG00116, NA19083, HG01108, NA18615, HG00707, HG00111, NA18631, NA19438, NA19472, NA19713, HG00123, HG00186, HG01251, HG00377, NA19004, NA18488, HG01125, HG00171, NA19065, HG01112, NA19429, HG00553, NA20509

Known Genes

Method

Merging

Analysis

No reference, merging analysis

Platform

Merging

Comments

Reference

1000_Genomes_Consortium_Phase_1

Pubmed ID

23128226

Accession Number(s)

esv2675404

Frequency

Sample Size	1151
Observed Gain	0
Observed Loss	140
Observed Complex	0
Frequency	n/a