Variant Details

Variant: esv2758116

Internal ID

9633575

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr7:61100600..63648997	hg38	UCSC Ensembl
Inner	chr7:61083325..63109375	hg19	UCSC Ensembl
Inner	chr7:61087267..62746810	hg18	UCSC Ensembl
Inner	chr7:60893982..62553525	hg17	UCSC Ensembl

Cytoband

7q11.1

Allele length

Assembly	Allele length
hg38	2548398
hg19	2026051
hg18	1659544
hg17	1659544

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2759533

Supporting Variants

essv9236, essv10320, essv14079, essv17309, essv6734, essv18945, essv18394, essv13477, essv8369, essv13876, essv388, essv19639, essv22816, essv13559, essv9147, essv22386, essv18327, essv7084, essv13133, essv12244, essv8228, essv12307, essv2091, essv17659, essv22033, essv17157, essv14647, essv2997, essv9899, essv16126, essv14780, essv15310, essv21233, essv788, essv18072, essv4745, essv13078, essv22002, essv10577, essv24249, essv114, essv460, essv6713, essv16838, essv11710, essv7557, essv16361, essv18855, essv10141, essv10876, essv10233, essv8461, essv14870, essv13696, essv11039, essv17708, essv18739, essv14519, essv16034, essv12632, essv8942, essv22914, essv12769, essv2801, essv17054, essv11951, essv11271, essv19281, essv16694, essv10762, essv9976, essv5806, essv7218, essv24973, essv14999, essv9431, essv5711, essv13037, essv21725, essv13789, essv1153, essv1432, essv18292, essv6022, essv16197, essv9589, essv2892, essv7319, essv21535, essv13642, essv1021, essv20387, essv12411, essv22649, essv17460, essv17318, essv15419, essv11450, essv23489, essv6289, essv16739, essv4023, essv679, essv14136, essv1210, essv14385, essv15698, essv14268, essv8286, essv6991, essv12537, essv12472, essv8783, essv21375, essv12788, essv7400, essv3186, essv9805, essv10395, essv11579, essv22430, essv11848, essv5540, essv6176, essv10622

Samples

NA18502, NA19141, NA19222, NA11830, NA19203, NA11995, NA19204, NA18862, NA18861, NA18508, NA18855, NA18507, NA19145, NA12751, NA18545, NA12004, NA12248, NA19098, NA18870, NA12155, NA19127, NA19192, NA19171, NA19005, NA18944, NA10846, NA19119, NA18635, NA18860, NA18547, NA18571, NA19138, NA18964, NA19130, NA18949, NA12005, NA19238, NA11994, NA19207, NA19172, NA19128, NA19159, NA10839, NA18975, NA19200, NA18951, NA12760, NA12752, NA19120, NA19194, NA19152, NA12872, NA19161, NA18956, NA18859, NA19205, NA18529, NA18516, NA18871, NA19103, NA10838, NA18981, NA19208, NA19221, NA19202, NA18537, NA18566, NA19142, NA10830, NA18856, NA12249, NA18912, NA19154, NA18857, NA18532, NA12145, NA19099, NA19101, NA18523, NA19160, NA10856, NA18570, NA18858, NA18593, NA18974, NA12043, NA18608, NA18953, NA18914, NA11881, NA18952, NA18863, NA19140, NA19240, NA19100, NA12873, NA10861, NA19193, NA12874, NA19143, NA18501, NA12740, NA18971, NA19173, NA18987, NA19093, NA18636, NA18500, NA18506, NA19102, NA12875, NA18854, NA19116, NA18872, NA18852, NA18968, NA18623, NA18522, NA12154, NA07034, NA18612, NA19153, NA18562, NA18620

Known Genes

LOC100287704, LOC100287834, MIR4283-1, MIR4283-2, ZNF733P

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)

esv2758116

Frequency

Sample Size	270
Observed Gain	121
Observed Loss	3
Observed Complex	0
Frequency	n/a