Variant Details

Variant: esv2757913

Internal ID

9633372

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr3:195652612..196344722	hg38	UCSC Ensembl
Inner	chr3:195379483..196071593	hg19	UCSC Ensembl
Inner	chr3:196864664..197555990	hg18	UCSC Ensembl
Inner	chr3:196868577..197559903	hg17	UCSC Ensembl

Cytoband

3q29

Allele length

Assembly	Allele length
hg38	692111
hg19	692111
hg18	691327
hg17	691327

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2759213

Supporting Variants

essv9947, essv24743, essv14741, essv6839, essv24876, essv10082, essv17278, essv2525, essv8108, essv4071, essv16015, essv8643, essv23619, essv20625, essv14858, essv6232, essv19792, essv13678, essv6311, essv10279, essv8300, essv25025, essv14184, essv17757, essv84, essv11968, essv8226, essv2025, essv15067, essv7741, essv20930, essv440, essv23142, essv13447, essv9631, essv9329, essv7303, essv21773, essv23837, essv23823, essv10139, essv18061, essv11001, essv13157, essv20209, essv2256, essv16950, essv16857, essv20029, essv10813, essv11846, essv19897, essv19097, essv12189, essv11902, essv21134, essv16353, essv11766, essv3895, essv17657, essv13550, essv24524, essv21077, essv14458, essv1101, essv3396, essv138, essv18424, essv15537, essv3117, essv6675, essv18346, essv6635, essv4831, essv4687, essv1415, essv13748, essv794, essv21268, essv8331, essv7039, essv21682, essv16641, essv3450, essv21412, essv20638, essv12666, essv4362, essv17633, essv16748, essv22060, essv12533, essv5553, essv9170, essv23464, essv17912, essv22599, essv10452, essv3691, essv9106, essv11442, essv3540, essv3059, essv7071, essv17052, essv13638, essv11275, essv19631, essv21975, essv18273, essv9103, essv9656, essv14328, essv5163, essv15896, essv13930, essv5487, essv18957, essv22974, essv15614, essv8484, essv24144, essv20372, essv4500, essv4985, essv7853, essv11503, essv12347, essv23400, essv10591, essv12462, essv23529, essv3730, essv699, essv17427, essv2202, essv23372, essv19167, essv18833, essv22222, essv15726, essv13089, essv18762, essv17292, essv16471, essv16161, essv8946, essv3171, essv9417, essv23077, essv15303, essv22411, essv24472, essv22366, essv17511, essv10366, essv23873, essv1500, essv9758, essv19207, essv18098, essv22830, essv3820, essv3238, essv1969, essv22438, essv23199, essv7380, essv16244, essv14530, essv12844, essv20133, essv10650, essv21337, essv7332, essv4787, essv2483, essv8864, essv14603, essv22773, essv15569, essv15230, essv20330, essv11799

Samples

NA18502, NA19141, NA19222, NA18621, NA18947, NA11995, NA19204, NA18862, NA18592, NA18508, NA12814, NA18980, NA18855, NA12236, NA19145, NA18999, NA12751, NA12004, NA12801, NA18504, NA12248, NA18959, NA12865, NA19098, NA12750, NA12155, NA07357, NA18969, NA12813, NA19127, NA19192, NA18944, NA12812, NA19201, NA10835, NA10846, NA10854, NA12802, NA19119, NA18635, NA18860, NA12891, NA18558, NA19131, NA18960, NA07048, NA12762, NA19138, NA18964, NA06993, NA19130, NA18949, NA12761, NA12005, NA07019, NA12156, NA19137, NA12044, NA11994, NA19207, NA19172, NA19128, NA18966, NA12815, NA19159, NA10855, NA19239, NA10839, NA18975, NA19200, NA11993, NA10847, NA19120, NA07022, NA19194, NA12753, NA12003, NA10831, NA12878, NA19161, NA18956, NA18515, NA19205, NA18991, NA18529, NA18516, NA18637, NA18579, NA18871, NA19103, NA18503, NA10838, NA18981, NA19208, NA19221, NA19202, NA18537, NA18573, NA19142, NA10830, NA18856, NA12249, NA12056, NA18912, NA12892, NA18857, NA12239, NA18853, NA12145, NA19099, NA19101, NA07345, NA19160, NA19132, NA18570, NA18858, NA18945, NA19012, NA18974, NA12043, NA18608, NA19094, NA19003, NA18632, NA19206, NA18542, NA06991, NA11881, NA18961, NA18952, NA18517, NA18863, NA18540, NA18564, NA19140, NA18913, NA19240, NA19100, NA19144, NA18992, NA10861, NA18943, NA19193, NA12874, NA07348, NA12763, NA07055, NA19143, NA18501, NA12740, NA19223, NA19173, NA18994, NA19093, NA10860, NA18636, NA18521, NA18500, NA18609, NA18506, NA19102, NA12875, NA18854, NA19116, NA18872, NA18552, NA18852, NA07056, NA18505, NA19129, NA18968, NA19139, NA12006, NA18623, NA07000, NA18522, NA12154, NA07034, NA18612, NA18622, NA19153, NA18965, NA11832, NA18620

Known Genes

LINC00885, MIR570, MIR6829, MUC20, MUC4, PCYT1A, SDHAP1, SDHAP2, SLC51A, TCTEX1D2, TFRC, TM4SF19, TM4SF19-TCTEX1D2, TNK2, ZDHHC19

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)

esv2757913

Frequency

Sample Size	270
Observed Gain	7
Observed Loss	177
Observed Complex	0
Frequency	n/a