Variant Details

Variant: esv2764112

Internal ID

10378148

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr8:16339682..16853031	hg38	UCSC Ensembl
Inner	chr8:16197191..16710540	hg19	UCSC Ensembl
Inner	chr8:16241562..16754911	hg18	UCSC Ensembl

Cytoband

8p22

Allele length

Assembly	Allele length
hg38	513350
hg19	513350
hg18	513350

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6992769, essv6992801, essv6992799, essv6992795, essv6992803, essv6992768, essv6992775, essv6992792, essv6992782, essv6992774, essv6992786, essv6992772, essv6992793, essv6992804, essv6992796, essv6992802, essv6992806, essv6992809, essv6992765, essv6992794, essv6992777, essv6992773, essv6992771, essv6992805, essv6992807, essv6992797, essv6992788, essv6992785, essv6992770, essv6992808, essv6992781, essv6992766, essv6992780, essv6992783, essv6992798, essv6992776, essv6992810, essv6992784, essv6992791, essv6992787, essv6992790, essv6992779

Samples

SW_1000, SW_0832, SW_0885, SW_1199, SW_0146, SW_0623, SW_0102, SW_1097, SW_1398, SW_0834, SW_0353, SW_1023, SW_0589, SW_0888, SW_0200, SW_0141, SW_1167, SW_1322, SW_1547, SW_1476, SW_1466, SW_1485, SW_1523, SW_0296, SW_0789, SW_1357, SW_0021, SW_1423, SW_0590, SW_1335, SW_0843, SW_1501, SW_1467, SW_1378, SW_0833, SW_0592, SW_1517, SW_1313, SW_1045, SW_1571, SW_1386, SW_0690

Known Genes

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)

esv2764112

Frequency

Sample Size	1109
Observed Gain	1
Observed Loss	41
Observed Complex	0
Frequency	n/a