Variant Details

Variant: esv2758446

Internal ID

9633905

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr17:21347629..22591105	hg38	UCSC Ensembl
Inner	chr17:21250941..22090432	hg19	UCSC Ensembl
Inner	chr17:21191534..22014559	hg18	UCSC Ensembl
Inner	chr17:21191534..22014559	hg17	UCSC Ensembl

Cytoband

17p11.2

Allele length

Assembly	Allele length
hg38	1243477
hg19	839492
hg18	823026
hg17	823026

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2758681

Supporting Variants

essv825, essv10923, essv15888, essv8419, essv464, essv20240, essv10347, essv12998, essv10000, essv21991, essv4732, essv7814, essv19226, essv12999, essv20172, essv5287, essv19616, essv7425, essv23063, essv4967, essv15256, essv7029, essv19774, essv14704, essv19556, essv24511, essv4221, essv22235, essv20333, essv886, essv3402, essv13621, essv14610, essv2289, essv9418, essv4408, essv25019, essv14312, essv6348, essv12356, essv23662, essv21758, essv11823, essv3016, essv3287, essv19935, essv8808, essv5383, essv6718, essv11124, essv9806, essv16400, essv5036, essv2461, essv17213, essv14371, essv24823, essv15321, essv13551, essv11048, essv8489, essv15528, essv13062, essv9915, essv17027, essv15611, essv9132, essv4452, essv24773, essv11681, essv16535, essv9999, essv5194, essv346, essv2846, essv11029, essv9942, essv2331, essv7547, essv23943, essv18151, essv11521, essv8371, essv20789, essv16526, essv7727, essv14195, essv8750, essv19459, essv13842, essv1259, essv17200, essv16671, essv20925, essv12303, essv4075, essv7105, essv18586, essv23599, essv16628, essv15048, essv16048, essv4007, essv22901, essv18697, essv15617, essv5245, essv11195, essv250, essv4843, essv9226, essv3801, essv22333, essv20054, essv5511, essv12807, essv24128, essv224, essv11857, essv12693, essv16130, essv14533, essv13460, essv11495, essv10433, essv20370, essv12646, essv9373, essv9725, essv2199, essv18317, essv16852, essv16439, essv12497, essv10318, essv12220, essv11954

Samples

NA18502, NA11995, NA18862, NA18508, NA12814, NA12236, NA19145, NA18999, NA18603, NA19092, NA18545, NA12801, NA12146, NA18633, NA12155, NA12813, NA18563, NA19127, NA19192, NA19171, NA18940, NA12812, NA10835, NA10846, NA18995, NA12802, NA18635, NA18860, NA18558, NA18960, NA07048, NA19138, NA18611, NA18970, NA19137, NA12044, NA19207, NA19128, NA18966, NA19159, NA19209, NA10839, NA18973, NA11993, NA10847, NA19210, NA12760, NA19120, NA19194, NA10863, NA18859, NA18515, NA19205, NA18516, NA18637, NA18948, NA10838, NA18981, NA12234, NA19208, NA19221, NA19202, NA18537, NA18573, NA19142, NA19000, NA11840, NA10830, NA18912, NA19154, NA12239, NA18853, NA19099, NA19101, NA12144, NA06985, NA19160, NA18858, NA18945, NA18576, NA18608, NA18953, NA19094, NA18632, NA18952, NA12864, NA18863, NA18540, NA19140, NA18913, NA19100, NA19144, NA18943, NA12874, NA19143, NA18501, NA18971, NA19223, NA19173, NA19211, NA19093, NA10860, NA18521, NA18500, NA18609, NA18506, NA18854, NA18972, NA18552, NA18852, NA18505, NA19129, NA18624, NA19139, NA12006, NA18623, NA07000, NA18612, NA11832, NA18620

Known Genes

C17orf51, FAM27L, FLJ36000, KCNJ12, KCNJ18, MTRNR2L1

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)

esv2758446

Frequency

Sample Size	270
Observed Gain	29
Observed Loss	106
Observed Complex	0
Frequency	n/a