Variant Details

Variant: esv2758043

Internal ID

9633502

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr6:31903735..32241336	hg38	UCSC Ensembl
Inner	chr6:31871512..32209113	hg19	UCSC Ensembl
Inner	chr6:31979491..32317091	hg18	UCSC Ensembl
Inner	chr6:31979491..32317091	hg17	UCSC Ensembl

Cytoband

6p21.32

Allele length

Assembly	Allele length
hg38	337602
hg19	337602
hg18	337601
hg17	337601

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2759415

Supporting Variants

essv20412, essv9751, essv20166, essv1517, essv20608, essv2042, essv14549, essv13752, essv9636, essv14106, essv16523, essv13487, essv15106, essv14699, essv13196, essv22992, essv9215, essv22061, essv5725, essv15499, essv22760, essv10743, essv11703, essv7095, essv17782, essv8315, essv7783, essv21304, essv17279, essv7868, essv17978, essv12207, essv10621, essv21078, essv2693

Samples

NA19141, NA18861, NA18980, NA18855, NA07357, NA18967, NA19192, NA18558, NA18949, NA07019, NA19128, NA19159, NA10855, NA19210, NA12003, NA10831, NA19103, NA19202, NA18537, NA10830, NA18856, NA19154, NA19101, NA18523, NA18593, NA18542, NA06991, NA18863, NA19102, NA07056, NA18505, NA19129, NA12154, NA19153, NA11832

Known Genes

AGER, AGPAT1, ATF6B, C2, C4A, C4B, C4B_2, CFB, CYP21A1P, CYP21A2, DXO, EGFL8, FKBPL, GPSM3, LOC100507547, LOC102060414, MIR1236, MIR6721, MIR6833, NELFE, NOTCH4, PBX2, PPT2, PPT2-EGFL8, PRRT1, RNF5, RNF5P1, SKIV2L, STK19, TNXA, TNXB

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)

esv2758043

Frequency

Sample Size	270
Observed Gain	4
Observed Loss	31
Observed Complex	0
Frequency	n/a