Variant Details

Variant: esv2757748

Internal ID

9979825

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:116622293..116732053	hg38	UCSC Ensembl
Inner	chr1:117164915..117274675	hg19	UCSC Ensembl
Inner	chr1:116966438..117076198	hg18	UCSC Ensembl
Inner	chr1:116876957..116986717	hg17	UCSC Ensembl

Cytoband

1p13.1

Allele length

Assembly	Allele length
hg38	109761
hg19	109761
hg18	109761
hg17	109761

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2758963

Supporting Variants

essv22443, essv2216, essv15717, essv18842, essv19397, essv3370, essv7094, essv20155, essv19965, essv17727, essv14578, essv13619, essv14693, essv10875, essv8620, essv9125, essv23226, essv12211, essv9067, essv16235, essv23528, essv18715, essv4070, essv17761, essv22960, essv25001, essv22323, essv14164, essv5908, essv7566, essv16780, essv8160, essv22381, essv4154, essv11977, essv23053, essv19584, essv19083, essv24430, essv22642, essv1902, essv11227, essv10296, essv17555, essv17285, essv24858, essv7159, essv3795, essv16830, essv8876, essv12549, essv8372, essv20091, essv21255, essv15089, essv6905

Samples

NA19204, NA18508, NA12751, NA18545, NA07029, NA19098, NA07357, NA12813, NA19127, NA18550, NA12812, NA18635, NA18860, NA18547, NA19131, NA18960, NA07048, NA12762, NA06993, NA12761, NA19159, NA10855, NA19239, NA10839, NA18605, NA12752, NA10831, NA12872, NA19161, NA19205, NA18871, NA18976, NA19202, NA18537, NA11840, NA18856, NA12707, NA19101, NA18555, NA06985, NA19132, NA18858, NA18945, NA19206, NA18517, NA12864, NA19140, NA18943, NA12874, NA07055, NA18506, NA12875, NA18872, NA19129, NA07000, NA11832

Known Genes

C1orf137, IGSF3, MIR320B1

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)

esv2757748

Frequency

Sample Size	270
Observed Gain	40
Observed Loss	16
Observed Complex	0
Frequency	n/a