Variant Details

Variant: esv2421617

Internal ID

7905379

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:155216160..155236376	hg38	UCSC Ensembl
Inner	chr1:155185951..155206167	hg19	UCSC Ensembl
Inner	chr1:153452575..153472791	hg18	UCSC Ensembl

Cytoband

1q22

Allele length

Assembly	Allele length
hg38	20217
hg19	20217
hg18	20217

Variant Type

CNV duplication

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv5100941, essv5059193, essv5034857, essv5009170, essv5154422, essv5084444, essv5070801, essv5110237, essv5156016, essv5005883, essv5041397, essv5135407, essv5078186, essv5114495, essv5044586, essv5128072, essv5092327, essv5063267, essv5115026, essv5011822, essv5109448, essv5152306, essv5124849, essv5012914, essv5122155, essv5061169, essv5079338, essv5038333, essv5101165, essv5114581, essv5131995, essv5072179, essv5090643, essv5016282, essv5147657, essv5052990, essv5152699, essv5006204, essv5111214, essv5062905, essv5147282, essv5090880, essv5022166, essv5139809, essv5074777, essv5100134, essv5146336

Samples

NA21317, NA19909, NA19332, NA18917, NA21489, NA19393, NA21475, NA19190, NA18510, NA19107, NA19171, NA21371, NA19191, NA20756, NA21479, NA19313, NA19130, NA19917, NA19215, NA19235, NA19172, NA19317, NA19128, NA19714, NA19176, NA19103, NA21295, NA19031, NA19318, NA19436, NA21608, NA19834, NA21685, NA21768, NA19334, NA21517, NA19679, NA21615, NA19428, NA21513, NA20348, NA19109, NA19173, NA19102, NA19711, NA19129, NA21333

Known Genes

GBA, GBAP1

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)

esv2421617

Frequency

Sample Size	1184
Observed Gain	47
Observed Loss	0
Observed Complex	0
Frequency	n/a