Variant Details

Variant: esv2421713

Internal ID

8252161

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr7:6085750..6098480	hg38	UCSC Ensembl
Inner	chr7:6125381..6138111	hg19	UCSC Ensembl
Inner	chr7:6091907..6104637	hg18	UCSC Ensembl

Cytoband

7p22.1

Allele length

Assembly	Allele length
hg38	12731
hg19	12731
hg18	12731

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv5099142, essv5086974, essv5027974, essv5027778, essv5152025, essv5148436, essv5160743, essv5130467, essv5028317, essv5152521, essv5070045, essv5079024, essv5068813, essv5037326, essv5073952, essv5061773, essv5021683, essv5114491, essv5042935, essv5006559, essv5086105, essv5128612, essv5098434, essv5098689, essv5061436, essv5104629, essv5123399, essv5042150, essv5014372, essv5115206, essv5027368, essv5148969, essv5098709, essv5078596, essv5135983, essv5088623, essv5025425, essv5137415, essv5041665, essv5114893, essv5153542, essv5154082, essv5053693, essv5136923, essv5062177, essv5131944, essv5038596, essv5121935, essv5008909, essv5149787, essv5152213, essv5073484, essv5061184, essv5137465, essv5051710, essv5023032, essv5025457, essv5124237, essv5093759, essv5075714, essv5135874, essv5104782, essv5073330, essv5124518, essv5156513, essv5020519, essv5144351, essv5097735, essv5058262, essv5093089, essv5088892, essv5131792, essv5013775, essv5137158, essv5031361, essv5098492, essv5061860, essv5038392

Samples

NA19258, NA19237, NA19186, NA19703, NA19909, NA19249, NA19204, NA19914, NA18935, NA18486, NA19393, NA18504, NA20364, NA19836, NA19443, NA19190, NA18510, NA21434, NA19107, NA19127, NA19192, NA19902, NA19191, NA18860, NA18916, NA19197, NA19457, NA19313, NA19038, NA19199, NA21529, NA19915, NA19371, NA19235, NA18520, NA18867, NA21414, NA18934, NA19194, NA18859, NA18515, NA19327, NA19455, NA18516, NA20126, NA18503, NA20358, NA20344, NA21441, NA19118, NA19181, NA18499, NA18853, NA19257, NA19834, NA19108, NA20276, NA19140, NA19174, NA19334, NA19919, NA19428, NA18869, NA20357, NA19117, NA18484, NA19109, NA19248, NA19438, NA19178, NA19185, NA20345, NA19900, NA19121, NA19129, NA18488, NA20277, NA19429

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)

esv2421713

Frequency

Sample Size	1184
Observed Gain	0
Observed Loss	78
Observed Complex	0
Frequency	n/a