Variant Details

Variant: esv2758415

Internal ID

9633874

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr16:22282803..22760988	hg38	UCSC Ensembl
Inner	chr16:22294124..22772309	hg19	UCSC Ensembl
Inner	chr16:22201625..22679810	hg18	UCSC Ensembl
Inner	chr16:22201625..22679810	hg17	UCSC Ensembl

Cytoband

16p12.1

Allele length

Assembly	Allele length
hg38	478186
hg19	478186
hg18	478186
hg17	478186

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2758637

Supporting Variants

essv6661, essv6170, essv17828, essv15276, essv10688, essv13891, essv20246, essv12184, essv15117, essv8846, essv13449, essv20807, essv4067, essv9251, essv12642, essv11540, essv23499, essv2021, essv18145, essv10134, essv8285, essv15359, essv22636, essv4128, essv9115, essv21062, essv16233, essv10537, essv10804, essv7393, essv12860, essv21462, essv20354, essv4594, essv15473, essv15883, essv10907, essv18205, essv24924, essv22880, essv22591, essv20111, essv10303, essv4418, essv16885, essv14186, essv5306, essv23204, essv11762, essv23830, essv3083, essv20099, essv17333, essv2882, essv20438, essv3770, essv10492, essv8432, essv18365, essv1825, essv17006, essv12491, essv10070, essv12559, essv7558, essv8768, essv18282, essv9411, essv24648, essv9753, essv24070, essv16063, essv13737, essv11691, essv16532, essv12378, essv19390, essv4973, essv17267, essv22963, essv22320, essv21976, essv18344, essv2300, essv8241, essv432, essv23964, essv14126, essv11238, essv3793, essv12290, essv76, essv10999, essv4460, essv18978, essv24856, essv13659, essv16751, essv13003, essv24768, essv14557, essv4613, essv20557, essv20189, essv17081, essv15669, essv13093, essv14343, essv14744, essv6748, essv2485, essv16115, essv18698, essv23229, essv3346, essv19609, essv14961, essv21530, essv25011, essv14453, essv1759, essv21757, essv11167, essv347, essv15566, essv13200, essv1118, essv23973, essv16447, essv5285, essv289, essv24589, essv3229, essv2529, essv17121, essv21685, essv6009, essv9087, essv19952, essv3959, essv16713, essv12727, essv24522, essv19570, essv14596, essv23598, essv6998, essv13608, essv9914, essv7827, essv1954, essv10224, essv9748, essv5103, essv22201, essv10419, essv6259, essv2670, essv903, essv10831, essv6352, essv8608

Samples

NA12717, NA19222, NA11995, NA11829, NA19204, NA18862, NA18861, NA18508, NA12814, NA18524, NA18855, NA12236, NA19145, NA18999, NA19092, NA18545, NA07029, NA18504, NA12248, NA12146, NA18959, NA19098, NA18870, NA12155, NA07357, NA18969, NA12813, NA18967, NA18563, NA19127, NA19192, NA19171, NA19201, NA10846, NA12802, NA19119, NA18635, NA18860, NA18558, NA11992, NA07048, NA18571, NA19138, NA18964, NA19130, NA18949, NA12005, NA18970, NA12156, NA19137, NA19238, NA12044, NA11994, NA19207, NA19172, NA19128, NA18966, NA19159, NA19239, NA19209, NA10839, NA11993, NA19210, NA12760, NA12752, NA19120, NA07022, NA19194, NA10831, NA19152, NA19161, NA18859, NA18515, NA19205, NA18991, NA18516, NA18637, NA18871, NA19103, NA18976, NA18503, NA19208, NA19202, NA18573, NA19142, NA19000, NA11840, NA10830, NA18856, NA12249, NA18912, NA19154, NA18532, NA12239, NA19099, NA19101, NA18555, NA07345, NA12144, NA06985, NA18523, NA19132, NA18945, NA18974, NA18608, NA18953, NA19094, NA19003, NA18978, NA18914, NA06991, NA12716, NA18961, NA18952, NA12864, NA18863, NA12057, NA10859, NA19140, NA18913, NA19240, NA19100, NA12873, NA19144, NA18943, NA12874, NA07348, NA18594, NA19143, NA18501, NA06994, NA18971, NA19223, NA19173, NA19211, NA19093, NA10860, NA18636, NA18500, NA18609, NA18506, NA19102, NA18854, NA19116, NA18872, NA18552, NA18852, NA07056, NA18505, NA19129, NA18624, NA19139, NA12006, NA18623, NA07000, NA07034, NA18612, NA19153, NA18562, NA18577, NA11832, NA18997

Known Genes

CDR2, EEF2K, LOC100190986, LOC653786, MIR548AA2, MIR548D2, NPIPB5, POLR3E, RRN3P3, SMG1P1

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)

esv2758415

Frequency

Sample Size	270
Observed Gain	151
Observed Loss	11
Observed Complex	0
Frequency	n/a