Variant Details

Variant: esv2421406

Internal ID

7905168

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:59578250..59592607	hg38	UCSC Ensembl
Inner	chr1:60043922..60058279	hg19	UCSC Ensembl
Inner	chr1:59816510..59830867	hg18	UCSC Ensembl

Cytoband

1p32.1

Allele length

Assembly	Allele length
hg38	14358
hg19	14358
hg18	14358

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv5092760, essv5079202, essv5021553, essv5088404, essv5132707, essv5054047, essv5137789, essv5121507, essv5119858, essv5028079, essv5109864, essv5158907, essv5045547, essv5070187, essv5023539, essv5027230, essv5071340, essv5044255, essv5059035, essv5009372, essv5055366, essv5036591, essv5060569, essv5103864, essv5045282, essv5132781, essv5032236, essv5045441, essv5043644, essv5035130, essv5065636, essv5084190, essv5031687, essv5065775, essv5087514, essv5020151, essv5115967, essv5099242, essv5091848, essv5049082, essv5155732, essv5036975, essv5103948, essv5055954, essv5048759, essv5087946, essv5118877, essv5033434, essv5056547, essv5124457, essv5100443, essv5149511, essv5040550, essv5080174, essv5053666, essv5048253, essv5117768, essv5024755, essv5067428, essv5036213, essv5039434, essv5066842, essv5096985, essv5087237, essv5049830, essv5130525, essv5155309, essv5098890, essv5158322, essv5105946, essv5108757, essv5060169, essv5038259, essv5017970, essv5041917, essv5049821, essv5088344, essv5003480, essv5139519, essv5058318, essv5122235, essv5053200, essv5021978, essv5017433, essv5086182, essv5153361, essv5011633, essv5074004, essv5068132, essv5060972, essv5060096, essv5129341, essv5015016, essv5078871, essv5063136, essv5072761, essv5002820, essv5099583, essv5129886, essv5082473, essv5022439, essv5159584, essv5090086, essv5009759, essv5034332, essv5144502, essv5103035, essv5063892, essv5054474, essv5097353, essv5103560, essv5147049, essv5066027, essv5044839, essv5094505, essv5130173, essv5005275, essv5004870, essv5135853, essv5120070, essv5118931, essv5019130, essv5150614, essv5120685, essv5031374, essv5054403, essv5115475, essv5154431, essv5056501, essv5136841, essv5047791, essv5096990, essv5028615, essv5057642, essv5099289, essv5112933, essv5109585, essv5041049, essv5157461, essv5126515, essv5119898, essv5040584, essv5038835, essv5027088, essv5114575, essv5091329, essv5039137, essv5103220, essv5113121, essv5051229, essv5085406, essv5078694, essv5020452, essv5134318, essv5113893, essv5028202, essv5061577, essv5134301, essv5103155, essv5065377, essv5041519

Samples

NA19394, NA19222, NA21686, NA21317, NA21683, NA20543, NA20891, NA20877, NA19909, NA20292, NA18855, NA21436, NA19763, NA21352, NA19350, NA20294, NA21648, NA21115, NA19377, NA19098, NA21522, NA20359, NA21784, NA18969, NA19746, NA19127, NA19381, NA21371, NA19379, NA21378, NA19201, NA21520, NA19382, NA19762, NA19119, NA20911, NA20769, NA19649, NA19062, NA19784, NA19650, NA21493, NA19138, NA20287, NA19782, NA21613, NA20291, NA19130, NA19038, NA21574, NA21382, NA19123, NA21611, NA20775, NA12156, NA20349, NA19371, NA19238, NA11994, NA19172, NA21107, NA19226, NA19087, NA20869, NA21825, NA20347, NA18520, NA21362, NA19708, NA12828, NA21442, NA19456, NA21400, NA20127, NA21451, NA21494, NA19714, NA21599, NA20360, NA21313, NA19210, NA21575, NA20787, NA19403, NA21596, NA19347, NA18933, NA18956, NA18859, NA19184, NA19327, NA19455, NA21300, NA19788, NA20875, NA20126, NA20344, NA21485, NA19221, NA21441, NA18626, NA11893, NA21339, NA18930, NA18946, NA18912, NA18853, NA19009, NA19318, NA19132, NA20319, NA18978, NA20872, NA18914, NA21424, NA18909, NA20295, NA21311, NA21425, NA20527, NA21517, NA20902, NA19919, NA19470, NA19428, NA19193, NA12763, NA21513, NA20357, NA19818, NA19117, NA21379, NA19248, NA21580, NA19472, NA20849, NA19828, NA18500, NA20786, NA19102, NA18873, NA21418, NA19096, NA19711, NA20345, NA21303, NA19121, NA20128, NA19430, NA18505, NA18955, NA19139, NA21514, NA19063, NA21491, NA21421, NA20350, NA19431, NA18965, NA21091, NA21333

Known Genes

FGGY

Method

SNP array

Analysis

To assess copy number variation we merged and analysed the probe level intensity data from both the Affymetrix and Illumina arrays.

Platform

Not specified

Comments

Reference

Altshuler_et_al_2010

Pubmed ID

20811451

Accession Number(s)

esv2421406

Frequency

Sample Size	1184
Observed Gain	0
Observed Loss	161
Observed Complex	0
Frequency	n/a