Variant Details

Variant: esv2758486

Internal ID

9980563

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr19:8786994..8861171	hg38	UCSC Ensembl
Inner	chr19:8897670..8971847	hg19	UCSC Ensembl
Inner	chr19:8758670..8832847	hg18	UCSC Ensembl
Inner	chr19:8758670..8832847	hg17	UCSC Ensembl

Cytoband

19p13.2

Allele length

Assembly	Allele length
hg38	74178
hg19	74178
hg18	74178
hg17	74178

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2758744

Supporting Variants

essv19088, essv9066, essv16346, essv9374, essv7106, essv13609, essv342, essv2778, essv18746, essv1501, essv15399, essv18937, essv14522, essv3972, essv15852, essv12822, essv24935, essv1839, essv164, essv25013, essv21524, essv5825, essv5133, essv12575, essv20261, essv7360, essv6628, essv6367, essv4206, essv6645, essv19228, essv24665, essv8312, essv4972, essv12762, essv23807, essv14643, essv14101, essv806, essv7271, essv22940, essv7572, essv21114, essv21171, essv2991, essv1137, essv5141, essv16877, essv9594, essv5517, essv15103, essv8836, essv13723, essv21849, essv21264, essv12373, essv22221, essv6959, essv23557, essv12612, essv20006, essv4249, essv7422, essv6216, essv3704, essv15759, essv9674, essv10284, essv21347, essv3125, essv5441, essv5052, essv12451, essv22401, essv4503, essv10242, essv23844, essv22782, essv5733, essv21711, essv19761, essv14388, essv24089, essv18585, essv16987, essv6171, essv8357, essv14745, essv14330, essv18417, essv18210, essv3468, essv3784, essv24127, essv23064, essv23953, essv8166, essv19536, essv20356, essv24488, essv23592, essv23470, essv15243, essv24558, essv19970, essv3537, essv4738, essv11651, essv14202, essv11886, essv20787, essv260, essv20919, essv44, essv7228, essv4176, essv20646, essv8776, essv16648, essv293, essv6813, essv12168, essv5248, essv3183, essv10086, essv4403, essv20169, essv18441

Samples

NA19141, NA11830, NA19203, NA18621, NA18947, NA11829, NA18861, NA18592, NA18508, NA12814, NA18980, NA12236, NA18507, NA18603, NA19092, NA18545, NA12801, NA12248, NA12146, NA19098, NA18526, NA07357, NA18969, NA12813, NA19127, NA12812, NA10835, NA12802, NA19119, NA18547, NA19131, NA11992, NA07048, NA18582, NA18964, NA06993, NA19130, NA12005, NA18970, NA07019, NA19238, NA12044, NA19207, NA12815, NA19159, NA10855, NA10839, NA18973, NA11831, NA10847, NA19120, NA07022, NA19194, NA19152, NA12878, NA19205, NA18991, NA18529, NA18637, NA18579, NA19103, NA18976, NA18948, NA11839, NA10838, NA18981, NA12234, NA19221, NA19202, NA18537, NA18566, NA18573, NA19142, NA12249, NA12892, NA19154, NA18532, NA18853, NA19101, NA18555, NA12144, NA19132, NA18570, NA18858, NA18593, NA19012, NA18576, NA18608, NA19094, NA18978, NA18914, NA18632, NA19206, NA12864, NA18564, NA12057, NA10859, NA19140, NA18913, NA12873, NA19144, NA18992, NA18943, NA19193, NA12874, NA12763, NA07055, NA06994, NA18971, NA19223, NA18987, NA19093, NA18636, NA18500, NA18609, NA18506, NA12875, NA18552, NA19129, NA18968, NA18624, NA12006, NA18623, NA07034, NA18965, NA18577, NA11832, NA18620

Known Genes

MBD3L1, MUC16, ZNF558

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)

esv2758486

Frequency

Sample Size	270
Observed Gain	87
Observed Loss	41
Observed Complex	0
Frequency	n/a