Variant Details

Variant: esv2758971

Internal ID

9634430

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:155122502..155345016	hg38	UCSC Ensembl
Inner	chr1:155094978..155314807	hg19	UCSC Ensembl
Inner	chr1:153361602..153581431	hg18	UCSC Ensembl
Inner	chr1:151908051..152127880	hg17	UCSC Ensembl

Cytoband

1q22

Allele length

Assembly	Allele length
hg38	222515
hg19	219830
hg18	219830
hg17	219830

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2757756

Samples

NA19171, NA19130, NA19128, NA19173, NA19129

Known Genes

ASH1L, CLK2, DPM3, EFNA1, FAM189B, FDPS, GBA, GBAP1, HCN3, KRTCAP2, MIR92B, MTX1, MUC1, PKLR, RUSC1, RUSC1-AS1, SCAMP3, SLC50A1, THBS3, TRIM46

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)

esv2758971

Frequency

Sample Size	270
Observed Gain	5
Observed Loss	0
Observed Complex	0
Frequency	n/a