Variant Details

Variant: esv2759002

Internal ID

9981147

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:225217249..225339076	hg38	UCSC Ensembl
Inner	chr1:225404951..225526778	hg19	UCSC Ensembl
Inner	chr1:223471574..223593401	hg18	UCSC Ensembl
Inner	chr1:221711686..221833513	hg17	UCSC Ensembl

Cytoband

1q42.12

Allele length

Assembly	Allele length
hg38	121828
hg19	121828
hg18	121828
hg17	121828

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2757774

Samples

NA19141, NA19204, NA18862, NA12814, NA19145, NA18603, NA18504, NA12750, NA18967, NA18563, NA19127, NA19171, NA18944, NA18960, NA07048, NA12762, NA19138, NA18964, NA19130, NA18611, NA12005, NA19137, NA19238, NA19172, NA18966, NA19159, NA18990, NA18951, NA19210, NA19194, NA12003, NA10831, NA12872, NA19161, NA18859, NA18529, NA18976, NA10838, NA18981, NA12234, NA19202, NA18537, NA18566, NA18573, NA12249, NA18912, NA19154, NA18532, NA12264, NA12707, NA18523, NA18945, NA18974, NA11882, NA19206, NA18961, NA18952, NA12874, NA12763, NA18971, NA19211, NA18609, NA19129, NA07000, NA07034, NA18612, NA19153, NA18577, NA18620

Known Genes

DNAH14

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)

esv2759002

Frequency

Sample Size	270
Observed Gain	69
Observed Loss	0
Observed Complex	0
Frequency	n/a