Variant Details

Variant: esv2421631

Internal ID

7905393

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr11:133449571..133452827	hg38	UCSC Ensembl
Inner	chr11:133319466..133322722	hg19	UCSC Ensembl
Inner	chr11:132824676..132827932	hg18	UCSC Ensembl

Cytoband

11q25

Allele length

Assembly	Allele length
hg38	3257
hg19	3257
hg18	3257

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv5140921, essv5009955, essv5136257, essv5134019, essv5020957, essv5138832, essv5138636, essv5063709, essv5135953, essv5098596, essv5007900, essv5070842, essv5121529, essv5057836, essv5121700, essv5061052, essv5149480, essv5127452, essv5126210, essv5043658, essv5067901, essv5112789, essv5104331, essv5003384, essv5092542, essv5136655, essv5113417, essv5009754, essv5018936, essv5028823, essv5055904, essv5037934, essv5006913, essv5061772, essv5024985, essv5039074, essv5138580, essv5087324, essv5047244, essv5022974, essv5088394, essv5047195, essv5110337, essv5039479, essv5050385, essv5108267, essv5044770, essv5041307, essv5112140, essv5101645, essv5138538, essv5108518, essv5101270, essv5126984, essv5101866, essv5003417, essv5134720, essv5028187, essv5026399, essv5068743, essv5087044, essv5030282

Samples

NA21403, NA20290, NA19186, NA21488, NA21383, NA18924, NA21577, NA20292, NA21519, NA18917, NA21723, NA18925, NA21386, NA21741, NA21522, NA21739, NA19446, NA21355, NA21297, NA19197, NA19138, NA20291, NA21370, NA19199, NA21382, NA21650, NA19180, NA19226, NA21716, NA21362, NA21420, NA21387, NA20127, NA21414, NA21682, NA21438, NA19179, NA21441, NA19150, NA19151, NA18930, NA21578, NA19035, NA21573, NA21608, NA21314, NA19390, NA21528, NA21733, NA21582, NA19398, NA21364, NA21404, NA19185, NA21614, NA21384, NA20345, NA20128, NA21490, NA21491, NA20363, NA21333

Known Genes

OPCML

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)

esv2421631

Frequency

Sample Size	1184
Observed Gain	0
Observed Loss	62
Observed Complex	0
Frequency	n/a