Variant Details

Variant: esv2760410

Internal ID

10027773

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:1565561..1756248	hg38	UCSC Ensembl
Inner	chr1:1500941..1687687	hg19	UCSC Ensembl
Inner	chr1:1490804..1677547	hg18	UCSC Ensembl

Cytoband

1p36.33

Allele length

Assembly	Allele length
hg38	190688
hg19	186747
hg18	186744

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7029301, essv7028634, essv7027745, essv7029523, essv7028190, essv7030634, essv7029412, essv7030412, essv7021854, essv7029634, essv7028523, essv7027412, essv7027079, essv7030190, essv7029967, essv7014077, essv7027857, essv7019632, essv7024077, essv7030523, essv7028856, essv7010743, essv7027968, essv7018521, essv7027190, essv7027301, essv7017410, essv7027634, essv7028968, essv7029190, essv7028079, essv7022965, essv7015188, essv7011854, essv7009632, essv7028745, essv7026299, essv7020743, essv7025188, essv7029079, essv7029856, essv7029745, essv7030301, essv7030079, essv7028412, essv7012966, essv7028301, essv7016299, essv7027523

Samples

SW_1372, SW_0831, SW_1086, SW_1366, SW_0119, SW_1459, SW_0072, SW_0773, SW_1436, SW_0639, SW_1396, SW_0086, SW_0020, SW_1302, SW_0589, SW_0818, SW_0200, SW_1455, SW_0760, SW_0060, SW_1448, SW_0805, SW_0062, SW_1243, SW_0648, SW_1485, SW_1404, SW_1189, SW_1289, SW_0789, SW_1149, SW_0856, SW_0058, SW_1120, SW_1414, SW_1103, SW_1428, SW_1483, SW_1335, SW_0187, SW_0120, SW_0061, SW_1139, SW_1083, SW_1156, SW_0198, SW_1262, SW_0144, SW_1147

Known Genes

C1orf233, CDK11A, CDK11B, MIB2, MMP23A, MMP23B, NADK, SLC35E2, SLC35E2B, SSU72

Method

Merging

Analysis

Two different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.

Platform

Merging

Comments

Reference

Vogler_et_al_2010

Pubmed ID

21179565

Accession Number(s)

esv2760410

Frequency

Sample Size	1109
Observed Gain	8
Observed Loss	41
Observed Complex	0
Frequency	n/a