Variant Details

Variant: esv2764031

Internal ID

10378067

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr7:61081249..63419185	hg38	UCSC Ensembl
Inner	chr7:61063974..62879563	hg19	UCSC Ensembl
Inner	chr7:61067916..62516998	hg18	UCSC Ensembl

Cytoband

7q11.1

Allele length

Assembly	Allele length
hg38	2337937
hg19	1815590
hg18	1449083

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

dgv149e203

Supporting Variants

essv6990822, essv6990847, essv6990859, essv6990838, essv6990852, essv6990837, essv6990836, essv6990828, essv6990825, essv6990835, essv6990855, essv6990831, essv6990850, essv6990858, essv6990862, essv6990839, essv6990830, essv6990827, essv6990841, essv6990854, essv6990846, essv6990826, essv6990848, essv6990849, essv6990824, essv6990829, essv6990842, essv6990861, essv6990840, essv6990832, essv6990853, essv6990843, essv6990844, essv6990833, essv6990860, essv6990851

Samples

SW_0831, SW_0255, SW_0059, SW_1436, SW_1168, SW_0677, SW_1287, SW_1065, SW_0116, SW_0815, SW_0818, SW_0200, SW_1455, SW_0185, SW_0172, SW_1404, SW_1127, SW_1212, SW_1131, SW_1095, SW_1088, SW_1481, SW_0076, SW_1482, SW_0618, SW_0855, SW_0103, SW_1116, SW_0606, SW_0147, SW_1480, SW_1045, SW_0791, SW_0717, SW_1152, SW_0225

Known Genes

LOC100287704, LOC100287834, ZNF733P

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)

esv2764031

Frequency

Sample Size	1109
Observed Gain	18
Observed Loss	18
Observed Complex	0
Frequency	n/a