Variant Details

Variant: esv2758437

Internal ID

9633896

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr16:89376499..89585740	hg38	UCSC Ensembl
Inner	chr16:89442907..89652148	hg19	UCSC Ensembl
Inner	chr16:87970408..88179649	hg18	UCSC Ensembl
Inner	chr16:87970408..88179649	hg17	UCSC Ensembl

Cytoband

16q24.3

Allele length

Assembly	Allele length
hg38	209242
hg19	209242
hg18	209242
hg17	209242

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2758670

Supporting Variants

essv18600, essv12817, essv15481, essv16654, essv17156, essv21287, essv4898, essv3523, essv16051, essv18194, essv17269, essv14786, essv12548, essv8104, essv19776, essv10441, essv15301, essv23258, essv11168, essv24718, essv17332, essv8778, essv14640, essv24832, essv21799, essv15863, essv17891, essv19424, essv9918, essv15269, essv22680, essv4141, essv4788, essv5914, essv7841, essv7143, essv10583, essv13545, essv18435, essv14049, essv10042, essv16963, essv8242, essv2023, essv6872, essv10894, essv9138, essv23475, essv16416, essv12377, essv12279, essv22857, essv18763, essv19660, essv16229, essv21229, essv13856, essv11868

Samples

NA11830, NA11829, NA18862, NA18861, NA18561, NA19145, NA19092, NA07029, NA19098, NA19171, NA18550, NA10835, NA18860, NA18558, NA18547, NA18949, NA19238, NA19159, NA10855, NA19209, NA11831, NA18605, NA12760, NA12752, NA19120, NA12003, NA19161, NA18515, NA18503, NA12234, NA19221, NA19142, NA11840, NA18856, NA12239, NA12264, NA19099, NA19101, NA18555, NA19160, NA19094, NA19206, NA12057, NA19240, NA19144, NA12874, NA18501, NA19223, NA19211, NA19093, NA18854, NA19116, NA18505, NA19139, NA07000, NA07034, NA18965, NA18620

Known Genes

ANKRD11, CPNE7, RPL13, SNORD68, SPG7

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)

esv2758437

Frequency

Sample Size	270
Observed Gain	58
Observed Loss	0
Observed Complex	0
Frequency	n/a