Variant Details

Variant: esv3584139

Internal ID

18712337

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:160786662..160804733	hg38	UCSC Ensembl
Inner	chr2:161643173..161661244	hg19	UCSC Ensembl

Cytoband

2q24.2

Allele length

Assembly	Allele length
hg38	18072
hg19	18072

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

dgv1177e212

Supporting Variants

essv9835607, essv9835601, essv9835604, essv9835620, essv9835610, essv9835591, essv9835618, essv9835613, essv9835586, essv9835581, essv9835619, essv9835597, essv9835592, essv9835588, essv9835605, essv9835589, essv9835582, essv9835609, essv9835616, essv9835603, essv9835602, essv9835614, essv9835615, essv9835590, essv9835596, essv9835623, essv9835580, essv9835583, essv9835585, essv9835595, essv9835608, essv9835584, essv9835579, essv9835606, essv9835617, essv9835593, essv9835621, essv9835594, essv9835612

Samples

400920MK, 400432VA, 401734PG, 401972BA, 401856GC, 400641WJ, 400191MP, 400953MR, 401308LD, 400627CC, 401926MR, 401935TM, 401104DM, 401831TW, 401994BD, 401739BJ, 401620BA, 400041LJ, 401785MJ, 400768MN, 401804FG, 400758KP, 400043HC, 401630MK, 400844GP, 400547BS, 400006DK, 400846MC, 401696CG, 401176BD, 401391PJ, 401428LD, 401010HT, 401287CF, 401413RG, 400410CD, 401372RR, 400890IT, 401246HH

Known Genes

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)

esv3584139

Frequency

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