Variant Details

Variant: esv2759494

Internal ID

9981639

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr6:168482707..168638937	hg38	UCSC Ensembl
Inner	chr6:168883387..169039617	hg19	UCSC Ensembl
Inner	chr6:168626236..168781542	hg18	UCSC Ensembl
Inner	chr6:168701943..168857249	hg17	UCSC Ensembl

Cytoband

6q27

Allele length

Assembly	Allele length
hg38	156231
hg19	156231
hg18	155307
hg17	155307

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2758095

Samples

NA19204, NA18862, NA18861, NA18508, NA12814, NA18855, NA12236, NA12751, NA19098, NA18870, NA19171, NA18995, NA18547, NA07048, NA12762, NA18964, NA12005, NA07019, NA12044, NA19207, NA18990, NA10855, NA19239, NA19194, NA12003, NA10863, NA19205, NA18991, NA18516, NA18579, NA10838, NA19221, NA18573, NA19000, NA18912, NA19154, NA18853, NA19099, NA19101, NA12144, NA18523, NA19012, NA18974, NA19094, NA18914, NA18632, NA19206, NA18913, NA19100, NA19144, NA19193, NA18971, NA19223, NA19173, NA19093, NA18636, NA18521, NA18500, NA18506, NA19116, NA18872, NA18552, NA07056, NA18624, NA19139, NA12006, NA18623, NA18522, NA19153, NA18577, NA11832, NA18997

Known Genes

SMOC2

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)

esv2759494

Frequency

Sample Size	270
Observed Gain	5
Observed Loss	67
Observed Complex	0
Frequency	n/a