Variant Details

Variant: esv2757994

Internal ID

9980071

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr5:34098944..34369764	hg38	UCSC Ensembl
Inner	chr5:34099049..34369869	hg19	UCSC Ensembl
Inner	chr5:34134806..34405626	hg18	UCSC Ensembl
Inner	chr5:34134806..34405626	hg17	UCSC Ensembl

Cytoband

5p13.2

Allele length

Assembly	Allele length
hg38	270821
hg19	270821
hg18	270821
hg17	270821

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2759340

Supporting Variants

essv9989, essv20653, essv22160, essv15464, essv21247, essv20889, essv16989, essv21055, essv23020, essv20249, essv2652, essv1103, essv10133, essv78, essv16640, essv22530, essv18356, essv17479, essv23252, essv24655, essv18113, essv3023, essv22223, essv10855, essv8154, essv12208, essv22927, essv11049, essv17235, essv10760, essv15225, essv12752, essv11232, essv8809, essv7408, essv1466, essv16820, essv2619, essv23773, essv17462, essv5471, essv5563, essv20578, essv18952, essv2470, essv23176, essv2790, essv6592, essv15589, essv4374, essv8276, essv18195, essv9708, essv16356, essv18765, essv24003, essv15331, essv10267, essv19967, essv20177, essv21313, essv1739, essv13459, essv17969, essv16236, essv24848, essv1886, essv15111, essv24486, essv846, essv330, essv19511, essv10915, essv6715, essv19998

Samples

NA18621, NA11829, NA19204, NA18862, NA18508, NA18999, NA07029, NA12801, NA10857, NA07357, NA12813, NA18967, NA19192, NA18944, NA12812, NA12802, NA07048, NA12762, NA18964, NA19130, NA12005, NA12156, NA19137, NA12044, NA11994, NA18990, NA10855, NA19209, NA18973, NA11993, NA12003, NA12878, NA19161, NA18991, NA18529, NA18871, NA19103, NA18976, NA18503, NA18981, NA18573, NA19142, NA12892, NA19099, NA19101, NA12144, NA18523, NA12043, NA18608, NA19094, NA18914, NA18632, NA19206, NA06991, NA12716, NA12864, NA12057, NA18913, NA19144, NA19193, NA12874, NA07348, NA12763, NA19143, NA18971, NA18987, NA18506, NA18872, NA07056, NA18505, NA19129, NA18623, NA07000, NA11832, NA18997

Known Genes

C1QTNF3-AMACR

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)

esv2757994

Frequency

Sample Size	270
Observed Gain	35
Observed Loss	40
Observed Complex	0
Frequency	n/a