Variant Details

Variant: esv2758677

Internal ID

9634136

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr17:18331211..18543070	hg38	UCSC Ensembl
Inner	chr17:18234525..18446384	hg19	UCSC Ensembl
Inner	chr17:18175250..18387109	hg18	UCSC Ensembl
Inner	chr17:18175250..18387109	hg17	UCSC Ensembl

Cytoband

17p11.2

Allele length

Assembly	Allele length
hg38	211860
hg19	211860
hg18	211860
hg17	211860

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2758443

Samples

NA19141, NA18621, NA18861, NA18592, NA18508, NA18855, NA18561, NA18507, NA12248, NA18870, NA12750, NA18969, NA19127, NA19192, NA19171, NA18944, NA19119, NA18860, NA18960, NA12762, NA19138, NA19130, NA18949, NA19137, NA19238, NA19207, NA19128, NA19159, NA10855, NA19200, NA19210, NA19194, NA12003, NA19152, NA18515, NA18516, NA19202, NA19000, NA12249, NA18912, NA19154, NA18853, NA19101, NA19132, NA18858, NA18953, NA18978, NA18914, NA18632, NA19206, NA18952, NA12057, NA18913, NA19240, NA19144, NA19193, NA18501, NA18971, NA19173, NA19211, NA10860, NA18506, NA19116, NA18872, NA18505, NA19129, NA18968, NA19139

Known Genes

CCDC144B, EVPLL, FAM106A, FLJ35934, KRT16P1, LGALS9C, LOC339240, MIR6778, SHMT1, USP32P2

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)

esv2758677

Frequency

Sample Size	270
Observed Gain	63
Observed Loss	5
Observed Complex	0
Frequency	n/a