Variant Details

Variant: esv2757833

Internal ID

9633292

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:129108051..129392472	hg38	UCSC Ensembl
Inner	chr2:129865624..130150045	hg19	UCSC Ensembl
Inner	chr2:129582094..129866515	hg18	UCSC Ensembl
Inner	chr2:129581854..129866275	hg17	UCSC Ensembl

Cytoband

2q14.3

Allele length

Assembly	Allele length
hg38	284422
hg19	284422
hg18	284422
hg17	284422

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2759091

Supporting Variants

essv22560, essv1895, essv22176, essv23660, essv13458, essv153, essv10922, essv14567, essv8866, essv16927, essv2978, essv20383, essv16656, essv9337, essv13867, essv18258, essv14974, essv11493, essv4358, essv7342, essv5342, essv6266, essv5288, essv23591, essv10986, essv3739, essv18644, essv7607, essv11853, essv19932, essv4789, essv5507, essv16103, essv7132, essv24142, essv18139, essv20180, essv8353, essv19757, essv17636, essv15989, essv21025, essv16849, essv15584, essv13050, essv23942, essv21728, essv21767, essv15518, essv7736, essv4014

Samples

NA18508, NA12814, NA18545, NA12248, NA10857, NA18870, NA18633, NA12813, NA18563, NA19192, NA10835, NA10846, NA18970, NA19137, NA19209, NA11993, NA10847, NA12753, NA10863, NA19205, NA18976, NA18981, NA12234, NA19221, NA19202, NA18537, NA18573, NA19142, NA10830, NA12239, NA18853, NA18570, NA18858, NA18632, NA06991, NA18961, NA19100, NA19144, NA07348, NA19143, NA18501, NA19173, NA18636, NA18854, NA18852, NA18505, NA18968, NA18624, NA12006, NA11832, NA18620

Known Genes

Method

BAC aCGH

Analysis

Array images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).

Platform

Agilent

Comments

Reference

Redon_et_al_2006

Pubmed ID

17122850

Accession Number(s)

esv2757833

Frequency

Sample Size	270
Observed Gain	1
Observed Loss	50
Observed Complex	0
Frequency	n/a