Variant Details

Variant: esv2758954

Internal ID

9634413

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:103447737..103909380	hg38	UCSC Ensembl
Inner	chr1:103990359..104452002	hg19	UCSC Ensembl
Inner	chr1:103762947..104253525	hg18	UCSC Ensembl
Inner	chr1:103702380..104164023	hg17	UCSC Ensembl

Cytoband

1p21.1

Allele length

Assembly	Allele length
hg38	461644
hg19	461644
hg18	490579
hg17	461644

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2757743

Samples

NA18998, NA18502, NA19141, NA12717, NA11830, NA19203, NA18947, NA11829, NA19204, NA18862, NA18592, NA18508, NA18980, NA12236, NA18561, NA18507, NA18603, NA18545, NA07029, NA12801, NA12248, NA12146, NA10857, NA19098, NA12155, NA07357, NA18969, NA12813, NA18563, NA19127, NA19005, NA18944, NA18940, NA18550, NA10835, NA10846, NA18995, NA19119, NA18635, NA18860, NA19131, NA18960, NA18942, NA07048, NA18582, NA18571, NA19138, NA18964, NA18949, NA18611, NA12761, NA12005, NA07019, NA19137, NA11994, NA19128, NA19159, NA18990, NA10855, NA19239, NA10839, NA18975, NA19200, NA11993, NA19007, NA11831, NA10847, NA18605, NA12760, NA12752, NA19120, NA19194, NA12753, NA10831, NA19152, NA12872, NA18859, NA18991, NA18529, NA18516, NA18637, NA18579, NA19103, NA18976, NA18948, NA10838, NA12234, NA19208, NA19221, NA19202, NA18566, NA18573, NA19142, NA19000, NA10830, NA18856, NA12249, NA12892, NA19154, NA18857, NA18532, NA12264, NA12145, NA19099, NA12707, NA19101, NA07345, NA06985, NA18523, NA10856, NA18570, NA18858, NA18593, NA18945, NA19012, NA18974, NA18576, NA12043, NA18608, NA18953, NA19094, NA19003, NA18978, NA11882, NA19206, NA18542, NA06991, NA12716, NA11881, NA18952, NA12864, NA18863, NA12057, NA10859, NA19140, NA12873, NA19144, NA18992, NA18943, NA12874, NA12763, NA07055, NA18594, NA18501, NA06994, NA18971, NA19223, NA19173, NA18987, NA19211, NA18994, NA19093, NA10860, NA18636, NA18609, NA18506, NA19102, NA18854, NA19116, NA18972, NA18552, NA18852, NA19129, NA18968, NA18624, NA12006, NA18522, NA18612, NA18622, NA19153, NA18562, NA18965, NA18577, NA18620, NA18997

Known Genes

ACTG1P4, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, LOC101928436, RNPC3

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)

esv2758954

Frequency

Sample Size	270
Observed Gain	143
Observed Loss	32
Observed Complex	0
Frequency	n/a