Variant Details

Variant: esv2759547

Internal ID

9635006

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr7:100757867..101105965	hg38	UCSC Ensembl
Inner	chr7:100355490..100749246	hg19	UCSC Ensembl
Inner	chr7:100193426..100535966	hg18	UCSC Ensembl
Inner	chr7:100000141..100342681	hg17	UCSC Ensembl

Cytoband

7q22.1

Allele length

Assembly	Allele length
hg38	348099
hg19	393757
hg18	342541
hg17	342541

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2758125

Samples

NA18998, NA19203, NA18621, NA11995, NA18862, NA18861, NA18508, NA18524, NA18980, NA18855, NA18561, NA18545, NA12248, NA18959, NA18633, NA12750, NA18969, NA18967, NA19171, NA18940, NA10835, NA18995, NA19119, NA18635, NA18558, NA18547, NA19131, NA18571, NA12762, NA18949, NA18970, NA19238, NA19207, NA19128, NA18966, NA10855, NA18951, NA18605, NA19210, NA10831, NA18956, NA18991, NA18529, NA19103, NA18976, NA18948, NA18981, NA19208, NA18537, NA18573, NA10830, NA18532, NA18853, NA12264, NA18523, NA18576, NA18953, NA19094, NA18978, NA18632, NA18542, NA18961, NA18863, NA10859, NA19140, NA18913, NA19144, NA18943, NA19143, NA18971, NA19211, NA18994, NA10860, NA18636, NA18506, NA18854, NA18552, NA18505, NA18968, NA18623, NA12154, NA07034, NA18562, NA18965, NA18620

Known Genes

ACHE, EPHB4, MIR6875, MUC12, MUC17, SLC12A9, SRRT, TRIM56, TRIP6, UFSP1, ZAN

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)

esv2759547

Frequency

Sample Size	270
Observed Gain	8
Observed Loss	77
Observed Complex	0
Frequency	n/a