Variant Details

Variant: esv2758113

Internal ID

9633572

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr7:43912940..44017192	hg38	UCSC Ensembl
Inner	chr7:43952539..44056791	hg19	UCSC Ensembl
Inner	chr7:43919064..44023316	hg18	UCSC Ensembl
Inner	chr7:43725779..43830031	hg17	UCSC Ensembl

Cytoband

7p13

Allele length

Assembly	Allele length
hg38	104253
hg19	104253
hg18	104253
hg17	104253

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2759527

Supporting Variants

essv8118, essv15758, essv15822, essv12201, essv12678, essv15322, essv1185, essv19386, essv1495, essv23788, essv21065, essv15652, essv3280, essv9031, essv16850, essv22055, essv17962, essv6916, essv14689, essv23428, essv9687, essv20237, essv10031, essv16129, essv16079, essv19548, essv3352, essv3030, essv10995, essv17029, essv11210, essv10562, essv11689, essv16437, essv16627, essv6664, essv9887, essv9791, essv15082, essv20088, essv9128, essv8342, essv6139, essv14103, essv12480, essv21726, essv16285, essv8817, essv131, essv15546, essv21539, essv17180

Samples

NA19204, NA18862, NA18861, NA18508, NA18980, NA19145, NA12248, NA19171, NA10854, NA18860, NA19131, NA07048, NA19137, NA19207, NA19159, NA18951, NA18605, NA12003, NA19161, NA19205, NA18981, NA19142, NA11840, NA18912, NA19154, NA18532, NA19099, NA19101, NA12144, NA19132, NA18858, NA18945, NA18608, NA19206, NA06991, NA12864, NA18863, NA18913, NA19240, NA19100, NA12873, NA19144, NA12763, NA19143, NA18501, NA19223, NA18500, NA18972, NA19129, NA18968, NA19139, NA12154

Known Genes

POLR2J4, SPDYE1, UBE2D4, URGCP

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)

esv2758113

Frequency

Sample Size	270
Observed Gain	52
Observed Loss	0
Observed Complex	0
Frequency	n/a