Variant Details

Variant: esv2758507

Internal ID

9633966

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr19:54163847..54954956	hg38	UCSC Ensembl
Inner	chr19:54667579..55466324	hg19	UCSC Ensembl
Inner	chr19:59359391..60158136	hg18	UCSC Ensembl
Inner	chr19:59359391..60158136	hg17	UCSC Ensembl

Cytoband

19q13.42

Allele length

Assembly	Allele length
hg38	791110
hg19	798746
hg18	798746
hg17	798746

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2758771

Supporting Variants

essv16929, essv10400, essv9686, essv4391, essv11795, essv7298, essv10126, essv4568, essv21186, essv10052, essv2072, essv9088, essv21113, essv10754, essv13928, essv24879, essv15604, essv5506, essv11592, essv16442, essv3168, essv17304, essv19564, essv7759, essv23809, essv14718, essv16784, essv24494, essv17444, essv19951, essv23688, essv16298, essv17125, essv17533, essv21059

Samples

NA19222, NA11830, NA18592, NA18524, NA18504, NA12813, NA19171, NA12802, NA12762, NA19130, NA18949, NA19137, NA12815, NA19159, NA10863, NA19161, NA18573, NA18856, NA19099, NA18523, NA19132, NA19012, NA12043, NA18632, NA18542, NA06991, NA12864, NA18913, NA19144, NA12763, NA19173, NA18854, NA18872, NA19139, NA07000

Known Genes

CDC42EP5, FCAR, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, KIR3DX1, LAIR1, LAIR2, LENG8, LENG9, LILRA1, LILRA2, LILRA3, LILRA4, LILRA5, LILRA6, LILRB1, LILRB2, LILRB3, LILRB4, LILRB5, LILRP2, LOC100287534, MBOAT7, MIR4752, MIR8061, NCR1, NLRP7, RPS9, TMC4, TSEN34, TTYH1

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)

esv2758507

Frequency

Sample Size	270
Observed Gain	27
Observed Loss	8
Observed Complex	0
Frequency	n/a