Variant Details

Variant: esv2422047

Internal ID

7905809

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr16:72053111..72074194	hg38	UCSC Ensembl
Inner	chr16:72087010..72108093	hg19	UCSC Ensembl
Inner	chr16:70644511..70665594	hg18	UCSC Ensembl

Cytoband

16q22.2

Allele length

Assembly	Allele length
hg38	21084
hg19	21084
hg18	21084

Variant Type

CNV duplication

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv5084371, essv5132246, essv5016015, essv5119669, essv5079775, essv5098877, essv5099175, essv5038241, essv5016524, essv5140394, essv5154812, essv5055259, essv5065101, essv5135425, essv5012161, essv5003134, essv5124841, essv5142054, essv5106882, essv5133371, essv5094857, essv5130746, essv5084233, essv5018307, essv5090427, essv5005670, essv5061455, essv5101442, essv5081980, essv5155252, essv5146283, essv5132870, essv5157889, essv5053021, essv5007741, essv5011148, essv5016304, essv5002607, essv5038746, essv5141517, essv5121176, essv5106212, essv5137575, essv5119914, essv5112421, essv5071372, essv5057522, essv5077082, essv5008400, essv5125103, essv5153870, essv5156376, essv5075957, essv5087497, essv5110320, essv5019754, essv5136275, essv5049190, essv5149127, essv5024429, essv5049455, essv5091714, essv5020297, essv5135105, essv5156301, essv5066347, essv5077369, essv5057619, essv5076404, essv5104761, essv5003886, essv5020397, essv5115963, essv5119051, essv5062784, essv5094564, essv5038588, essv5122144, essv5052984, essv5126546, essv5042149, essv5157327, essv5115789, essv5070868, essv5152343, essv5127020, essv5047182

Samples

NA18497, NA19141, NA20290, NA19222, NA19186, NA19703, NA21577, NA19249, NA18862, NA18508, NA19332, NA21367, NA18504, NA20332, NA18870, NA19446, NA19396, NA19192, NA18519, NA18860, NA19197, NA19771, NA20287, NA19199, NA19383, NA21611, NA19238, NA19172, NA19226, NA19159, NA19036, NA19708, NA19209, NA21387, NA19027, NA19194, NA19175, NA19462, NA19161, NA18859, NA18515, NA19184, NA19455, NA19103, NA18503, NA20344, NA19221, NA19142, NA19449, NA19181, NA18499, NA19113, NA18912, NA19772, NA19099, NA21573, NA19183, NA19390, NA19115, NA19108, NA18517, NA19712, NA19473, NA18913, NA19240, NA21685, NA19334, NA21615, NA19428, NA19182, NA20341, NA20333, NA19705, NA19248, NA19223, NA19173, NA19474, NA20289, NA19102, NA18873, NA19096, NA21384, NA19121, NA18505, NA19224, NA20350, NA19431

Known Genes

HP, HPR

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)

esv2422047

Frequency

Sample Size	1184
Observed Gain	87
Observed Loss	0
Observed Complex	0
Frequency	n/a