Variant Details

Variant: esv2758976

Internal ID

9981121

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:169812865..169916045	hg38	UCSC Ensembl
Inner	chr1:169782006..169885186	hg19	UCSC Ensembl
Inner	chr1:168048630..168151810	hg18	UCSC Ensembl
Inner	chr1:166513664..166616844	hg17	UCSC Ensembl

Cytoband

1q24.2

Allele length

Assembly	Allele length
hg38	103181
hg19	103181
hg18	103181
hg17	103181

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2757760

Samples

NA18502, NA19222, NA11830, NA18621, NA19204, NA18862, NA18861, NA18508, NA18524, NA18561, NA18507, NA18999, NA18603, NA18545, NA07029, NA12004, NA12801, NA07357, NA18967, NA18563, NA19192, NA19171, NA18944, NA18940, NA12812, NA18995, NA10854, NA19119, NA18547, NA07048, NA19130, NA18949, NA18611, NA07019, NA19207, NA19172, NA19128, NA19159, NA18990, NA10855, NA19239, NA19209, NA18975, NA18973, NA19200, NA19007, NA19210, NA19194, NA10831, NA19152, NA19161, NA18991, NA18529, NA18516, NA18637, NA18976, NA18948, NA18981, NA19221, NA19202, NA18566, NA18573, NA11840, NA18856, NA19154, NA18532, NA12264, NA19099, NA12707, NA18555, NA19160, NA18945, NA18576, NA18608, NA18953, NA19094, NA19003, NA18978, NA18914, NA18952, NA18540, NA12057, NA19140, NA18913, NA19100, NA19193, NA12874, NA07348, NA18501, NA06994, NA18971, NA19223, NA19173, NA18987, NA19211, NA19093, NA18500, NA18506, NA19102, NA12875, NA18854, NA19116, NA18852, NA07056, NA18505, NA19129, NA18968, NA18624, NA18623, NA18522, NA07034, NA18622, NA18562, NA11832, NA18620, NA18997

Known Genes

C1orf112, SCYL3

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)

esv2758976

Frequency

Sample Size	270
Observed Gain	2
Observed Loss	114
Observed Complex	0
Frequency	n/a