Variant Details

Variant: esv2758171

Internal ID

9980248

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr8:132389103..132672643	hg38	UCSC Ensembl
Inner	chr8:133401350..133684889	hg19	UCSC Ensembl
Inner	chr8:133470532..133754071	hg18	UCSC Ensembl
Inner	chr8:133470532..133754071	hg17	UCSC Ensembl

Cytoband

8q24.22

Allele length

Assembly	Allele length
hg38	283541
hg19	283540
hg18	283540
hg17	283540

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2759642

Supporting Variants

essv5490, essv23398, essv4994, essv14560, essv19569, essv11774, essv4833, essv11236, essv20634, essv15201, essv19194, essv6958, essv5039, essv10359, essv20183, essv308, essv12797, essv10431, essv2089, essv18371, essv20769, essv23146, essv15580, essv2627, essv15493, essv4413, essv22631, essv1776, essv15804, essv22886, essv3289, essv9798, essv10807, essv19206, essv7791, essv18605, essv11519, essv23251, essv16781, essv22091, essv3119, essv23329, essv16167, essv23562, essv13863, essv23828, essv21137, essv21971, essv7610, essv15142, essv16690, essv20584, essv20127, essv7366, essv7405, essv10824, essv13549, essv24816, essv845, essv5164, essv22170, essv1428, essv17117, essv3720, essv5251, essv10676, essv231, essv12448, essv2337, essv17597, essv2894, essv8381, essv4057, essv5803, essv12710, essv8487, essv4735, essv21803, essv19775, essv1247, essv7234, essv13693, essv13633, essv6349, essv23905, essv19651, essv3882, essv13091, essv21182, essv16043, essv10925, essv7714, essv22829, essv11845, essv14359, essv6685, essv14402, essv2279, essv13810, essv22743, essv23671, essv23507, essv18318, essv5221, essv5111, essv16213, essv9404, essv18336, essv19604, essv14790, essv3765, essv24505, essv21428, essv11141, essv17713, essv12621, essv8954, essv6808, essv13012, essv9380, essv16835, essv1184, essv20374, essv24565, essv18972, essv13462, essv692, essv7013, essv1910, essv10022, essv2810, essv22308, essv22537, essv8745, essv1106, essv4276, essv7080, essv476, essv15371, essv14110, essv18111, essv11804, essv2219, essv18859, essv18761, essv17793, essv8787, essv3983, essv16431, essv15429, essv3386, essv17048, essv14421, essv7777

Samples

NA12717, NA19222, NA11830, NA19203, NA18947, NA11995, NA19204, NA18862, NA18861, NA18508, NA12814, NA18855, NA18507, NA18603, NA19092, NA12751, NA18545, NA07029, NA12004, NA18504, NA12146, NA12865, NA10857, NA18633, NA12750, NA12155, NA18969, NA18967, NA19127, NA19192, NA19171, NA18944, NA18940, NA19201, NA10835, NA10846, NA18995, NA10854, NA12802, NA19119, NA18635, NA12891, NA18558, NA18547, NA18960, NA11992, NA18582, NA18964, NA06993, NA18949, NA18611, NA12005, NA18970, NA07019, NA19137, NA11994, NA19207, NA19172, NA18966, NA12815, NA19159, NA19209, NA18975, NA18973, NA19200, NA11993, NA18951, NA12760, NA12752, NA19120, NA19194, NA12753, NA10863, NA10831, NA12872, NA19161, NA18859, NA18515, NA19205, NA18516, NA18637, NA18579, NA18871, NA18976, NA18948, NA10838, NA12234, NA19208, NA19221, NA19202, NA18537, NA18566, NA18573, NA19142, NA10830, NA12249, NA12892, NA12239, NA18853, NA12264, NA19099, NA07345, NA06985, NA18523, NA19160, NA18570, NA18858, NA18945, NA18576, NA18608, NA18953, NA19094, NA18978, NA18914, NA18632, NA18542, NA18961, NA18952, NA12864, NA18863, NA18540, NA18564, NA19100, NA12874, NA07348, NA12763, NA18501, NA19223, NA19173, NA18987, NA19211, NA18994, NA10860, NA18521, NA18500, NA18609, NA18854, NA18972, NA18872, NA18852, NA07056, NA18505, NA19129, NA18624, NA19139, NA18623, NA12154, NA07034, NA18612, NA19153, NA18577, NA11832, NA18620, NA18997

Known Genes

HPYR1, KCNQ3, LRRC6

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)

esv2758171

Frequency

Sample Size	270
Observed Gain	3
Observed Loss	151
Observed Complex	0
Frequency	n/a