Variant Details

Variant: dgv1374e212

Internal ID

20149830

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr3:47437007..47451879	hg38	UCSC Ensembl
	chr3:47478497..47493369	hg19	UCSC Ensembl

Cytoband

3p21.31

Allele length

Assembly	Allele length
hg38	14873
hg19	14873

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv3568735, esv3568734

Samples

400882DD, 401538NS, 400683EC, 401674DD, 401806DL, 401212HJ, 401258PC, 400942HR, 401958MF, 400558BL, 401380OL, 401514BA, 400164SS, 400362TV, 401391PJ, 401307VR, 401986LC, 401490TL, 400923OA, 401526WB, 400881GS, 400523GB, 401842BJ, 401714BM, 401259LS, 400600DP, 401825TH, 401252AE, 401465TB, 400982BS, 401939GD, 401135CS, 402062KR, 401698SB, 401331LJ, 401510DG, 401586RS, 401263HS, 400430KV, 401443JK, 400079AP, 400333CC, 400209BS, 400827MM

Known Genes

SCAP

Method

SNP array

Analysis

We used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.

Platform

Affymetrix CytoScan HD 2.7M array

Comments

Reference

Uddin_et_al_2014

Pubmed ID

25503493

Accession Number(s)

dgv1374e212

Frequency

Sample Size	873
Observed Gain	0
Observed Loss	44
Observed Complex	0
Frequency	n/a