Variant Details

Variant: esv3568043

Internal ID

18696241

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr14:73534407..73564330	hg38	UCSC Ensembl
Inner	chr14:74001111..74031034	hg19	UCSC Ensembl

Cytoband

14q24.3

Allele length

Assembly	Allele length
hg38	29924
hg19	29924

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

dgv655e212

Supporting Variants

essv9806614, essv9806574, essv9806583, essv9806606, essv9806591, essv9806605, essv9806608, essv9806589, essv9806586, essv9806603, essv9806584, essv9806575, essv9806611, essv9806579, essv9806590, essv9806596, essv9806594, essv9806607, essv9806578, essv9806592, essv9806576, essv9806593, essv9806601, essv9806597, essv9806580, essv9806612, essv9806582, essv9806587, essv9806602, essv9806600, essv9806598, essv9806573, essv9806581, essv9806613, essv9806572, essv9806585, essv9806609, essv9806604, essv9806595

Samples

400926LJ, 401299ST, 401249TP, 401195PN, 401733CG, 401434VN, 400347VJ, 401687LR, 401113MJ, 401832MC, 400353ML, 400609FJ, 400825TW, 401499JR, 400977SC, 402052ZA, 400240HJ, 400285FA, 401119DK, 400496BL, 401862AN, 401506LK, 400124FR, 402022SM, 400854SG, 401580CA, 400354TJ, 401514BA, 400518MS, 400624RJ, 400542EG, 401268PS, 401861GG, 401829FJ, 401177SL, 400581VJ, 400079AP, 401053MF, 401362ME

Known Genes

ACOT1, HEATR4

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)

esv3568043

Frequency

Sample Size	873
Observed Gain	39
Observed Loss	0
Observed Complex	0
Frequency	n/a