Variant Details

Variant: esv2763630

Internal ID

10030980

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:97065396..97662587	hg38	UCSC Ensembl
Inner	chr2:97731133..98279050	hg19	UCSC Ensembl
Inner	chr2:97094860..97645482	hg18	UCSC Ensembl

Cytoband

2q11.2

Allele length

Assembly	Allele length
hg38	597192
hg19	547918
hg18	550623

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7016356, essv7016645, essv7016822, essv7016622, essv7016312, essv7016400, essv7016700, essv7016589, essv7016511, essv7016767, essv7016600, essv7016811, essv7016456, essv7016534, essv7016378, essv7016445, essv7016334, essv7016745, essv7016367, essv7016722, essv7016656, essv7016778, essv7016345, essv7016423, essv7016611, essv7016389, essv7016578, essv7016556, essv7016733, essv7016434, essv7016500, essv7016833, essv7016756, essv7016789, essv7016800, essv7016323, essv7016467, essv7016412, essv7016689, essv7016489, essv7016478, essv7016567, essv7016545, essv7016711, essv7016667, essv7016634, essv7016678, essv7016523

Samples

SW_0884, SW_0832, SW_1021, SW_1433, SW_1111, SW_1081, SW_0158, SW_1056, SW_1143, SW_1150, SW_1051, SW_0762, SW_0804, SW_1138, SW_0660, SW_0581, SW_0589, SW_0032, SW_1106, SW_0200, SW_0650, SW_0060, SW_0605, SW_1282, SW_0375, SW_1028, SW_1504, SW_0803, SW_1212, SW_1043, SW_0008, SW_0628, SW_1130, SW_1228, SW_0618, SW_0594, SW_1176, SW_0592, SW_0606, SW_0626, SW_1301, SW_0791, SW_1262, SW_0148, SW_1090, SW_0569, SW_0836

Known Genes

ACTR1B, ANKRD36, ANKRD36B, COX5B, FAHD2B, LOC100506076, LOC100506123

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)

esv2763630

Frequency

Sample Size	1109
Observed Gain	5
Observed Loss	42
Observed Complex	0
Frequency	n/a