Variant Details

Variant: esv2763806

Internal ID

10377842

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr4:12281..121682	hg38	UCSC Ensembl
Inner	chr4:12281..121562	hg19	UCSC Ensembl
Inner	chr4:2281..111562	hg18	UCSC Ensembl

Cytoband

4p16.3

Allele length

Assembly	Allele length
hg38	109402
hg19	109282
hg18	109282

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7028550, essv7028559, essv7028552, essv7028538, essv7028555, essv7028542, essv7028553, essv7028561, essv7028563, essv7028541, essv7028545, essv7028544, essv7028554, essv7028543, essv7028567, essv7028564, essv7028570, essv7028549, essv7028537, essv7028556, essv7028565, essv7028569, essv7028547, essv7028540, essv7028571, essv7028551, essv7028562, essv7028536, essv7028539, essv7028566, essv7028560, essv7028558, essv7028548, essv7028534

Samples

SW_1027, SW_1063, SW_1433, SW_1051, SW_1354, SW_1049, SW_1058, SW_1129, SW_0173, SW_1023, SW_0200, SW_1305, SW_0060, SW_1309, SW_0005, SW_1153, SW_1404, SW_1358, SW_0019, SW_0819, SW_1131, SW_1371, SW_1029, SW_0843, SW_1205, SW_0254, SW_0007, SW_1510, SW_0855, SW_0113, SW_1308, SW_1484, SW_1203, SW_0239

Known Genes

ZNF595, ZNF718

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)

esv2763806

Frequency

Sample Size	1109
Observed Gain	27
Observed Loss	7
Observed Complex	0
Frequency	n/a