Variant Details

Variant: esv2758411

Internal ID

9633870

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr16:14528198..15272693	hg38	UCSC Ensembl
Inner	chr16:14622055..15366550	hg19	UCSC Ensembl
Inner	chr16:14529556..15274051	hg18	UCSC Ensembl
Inner	chr16:14529556..15274051	hg17	UCSC Ensembl

Cytoband

16p13.11

Allele length

Assembly	Allele length
hg38	744496
hg19	744496
hg18	744496
hg17	744496

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2758632

Supporting Variants

essv1594, essv8105, essv6954, essv4287, essv6726, essv236, essv12354, essv7215, essv3205, essv16011, essv22950, essv16469, essv8793, essv5094, essv16417, essv17149, essv22594, essv1896, essv406, essv6594, essv7082, essv7397, essv435, essv2498, essv2994, essv3167, essv7270, essv3470, essv6739, essv10949, essv2870, essv11187, essv13932, essv2261, essv1395, essv1125, essv17489, essv7535

Samples

NA18621, NA18592, NA18508, NA18603, NA18545, NA07357, NA19171, NA18547, NA18942, NA18582, NA12762, NA19138, NA18964, NA18966, NA19209, NA19007, NA18976, NA18948, NA18981, NA18537, NA19012, NA18974, NA18608, NA18953, NA19003, NA19206, NA18952, NA18992, NA07348, NA18501, NA18971, NA19211, NA18854, NA19139, NA18623, NA18562, NA18577

Known Genes

ABCC6P2, BFAR, LOC100288162, MIR1972-1, MIR1972-2, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR3180-4, MIR6511A-2, MIR6511B-1, MIR6770-2, NOMO1, NPIPA1, NPIPA2, NPIPA3, NTAN1, PARN, PDXDC1, PLA2G10, RRN3

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)

esv2758411

Frequency

Sample Size	270
Observed Gain	13
Observed Loss	24
Observed Complex	0
Frequency	n/a