Variant Details

Variant: esv2421872

Internal ID

8252320

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr4:56675071..56678865	hg38	UCSC Ensembl
Inner	chr4:57541237..57545031	hg19	UCSC Ensembl
Inner	chr4:57235994..57239788	hg18	UCSC Ensembl

Cytoband

4q12

Allele length

Assembly	Allele length
hg38	3795
hg19	3795
hg18	3795

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv5060625, essv5040088, essv5080314, essv5058418, essv5107345, essv5004091, essv5076015, essv5125416, essv5115983, essv5098021, essv5075059, essv5077476, essv5104640, essv5070756, essv5049463, essv5030460, essv5137986, essv5097088, essv5104480, essv5118556, essv5006460, essv5099133, essv5094664, essv5035362, essv5114894, essv5131946, essv5100649, essv5144721, essv5100840, essv5138899, essv5040761, essv5046194, essv5013282, essv5020940, essv5046099, essv5056043, essv5006122, essv5038864

Samples

NA19028, NA19141, NA19249, NA18855, NA18935, NA18486, NA19192, NA18489, NA19198, NA19197, NA20288, NA20287, NA19681, NA19130, NA19199, NA19238, NA19385, NA19226, NA19665, NA19209, NA19247, NA19194, NA18933, NA19184, NA19236, NA19683, NA19142, NA19132, NA18913, NA19240, NA19144, NA19439, NA19193, NA19182, NA19468, NA19211, NA19121, NA19224

Known Genes

HOPX

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)

esv2421872

Frequency

Sample Size	1184
Observed Gain	0
Observed Loss	38
Observed Complex	0
Frequency	n/a