Variant Details

Variant: esv2422085

Internal ID

8252533

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr8:122047592..122048823	hg38	UCSC Ensembl
Inner	chr8:123059831..123061062	hg19	UCSC Ensembl
Inner	chr8:123129012..123130243	hg18	UCSC Ensembl

Cytoband

8q24.13

Allele length

Assembly	Allele length
hg38	1232
hg19	1232
hg18	1232

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv5109462, essv5147516, essv5097289, essv5054826, essv5087909, essv5078421, essv5038592, essv5057485, essv5050343, essv5136908, essv5134040, essv5009028, essv5005461, essv5045669, essv5020060, essv5022928, essv5101087, essv5011018, essv5130456, essv5157920, essv5151195, essv5038580, essv5052922, essv5020453, essv5128307, essv5037698, essv5034218, essv5062830, essv5068444, essv5067334, essv5127244, essv5061195, essv5022262, essv5148691, essv5131003, essv5106658, essv5126605, essv5120383, essv5069538, essv5145410, essv5021754, essv5020934, essv5036654, essv5004732, essv5121874, essv5102113, essv5089368, essv5010171, essv5092098, essv5139183, essv5033810, essv5042410, essv5157116, essv5043719, essv5076787, essv5107688, essv5052950, essv5134744, essv5131899, essv5115811, essv5038531, essv5013266, essv5038458

Samples

NA19237, NA20529, NA21477, NA19186, NA21488, NA19203, NA19466, NA18508, NA19399, NA19122, NA18486, NA19393, NA21475, NA20364, NA21784, NA19107, NA19379, NA12336, NA19191, NA18860, NA21510, NA19130, NA19041, NA21611, NA20349, NA19226, NA19159, NA19036, NA19189, NA18934, NA12343, NA19161, NA18859, NA18515, NA19184, NA19236, NA19176, NA19103, NA20344, NA21339, NA18499, NA18912, NA19101, NA18914, NA19256, NA18517, NA19473, NA19818, NA20348, NA19109, NA19828, NA19093, NA19102, NA20345, NA19121, NA18852, NA19224, NA19316, NA20322, NA20277, NA19046, NA20350, NA21333

Known Genes

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)

esv2422085

Frequency

Sample Size	1184
Observed Gain	0
Observed Loss	63
Observed Complex	0
Frequency	n/a