Variant Details

Variant: esv2762298

Internal ID

10375096

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:110827750..110849445	hg38	UCSC Ensembl
Inner	chr1:111370372..111392067	hg19	UCSC Ensembl
Inner	chr1:111171895..111193590	hg18	UCSC Ensembl

Cytoband

1p13.3

Allele length

Assembly	Allele length
hg38	21696
hg19	21696
hg18	21696

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6994245, essv6993978, essv6993989, essv6993955, essv6994412, essv6994334, essv6994000, essv6993589, essv6994033, essv6993556, essv6994079, essv6993844, essv6994022, essv6993767, essv6993778, essv6994145, essv6993900, essv6993789, essv6994223, essv6994378, essv6994278, essv6994323, essv6994256, essv6994156, essv6993567, essv6993733, essv6994400, essv6993578, essv6994312, essv6993944, essv6993745, essv6993800, essv6994066, essv6994190, essv6994267, essv6994044, essv6993867, essv6993622, essv6994178, essv6993967, essv6993922, essv6993822, essv6994090, essv6993600, essv6993756, essv6993700, essv6994011, essv6994301, essv6994367, essv6994112, essv6994212, essv6994234, essv6993611, essv6994289, essv6994167, essv6993856, essv6993656, essv6994356, essv6994134, essv6993645, essv6993878, essv6994201, essv6994101, essv6994055, essv6994389, essv6993722, essv6993833, essv6993711, essv6993933, essv6993911, essv6994345, essv6993634, essv6993678, essv6994123, essv6993667, essv6993689, essv6993811, essv6993545, essv6993889

Samples

SW_0638, SW_1290, SW_1000, SW_1406, SW_1539, SW_0636, SW_1086, SW_1170, SW_0199, SW_1064, SW_0620, SW_1188, SW_0773, SW_1225, SW_1457, SW_1324, SW_1105, SW_1132, SW_1354, SW_0593, SW_0570, SW_1138, SW_1049, SW_0890, SW_1031, SW_0581, SW_1302, SW_0099, SW_0189, SW_1455, SW_0085, SW_1285, SW_1413, SW_0185, SW_1469, SW_1470, SW_1355, SW_1127, SW_0073, SW_1299, SW_0538, SW_1172, SW_1043, SW_1053, SW_0628, SW_1162, SW_1029, SW_1093, SW_1341, SW_0215, SW_0211, SW_1012, SW_0843, SW_0176, SW_0659, SW_1264, SW_1482, SW_1060, SW_0775, SW_1018, SW_1422, SW_1068, SW_0606, SW_1292, SW_0198, SW_0822, SW_1137, SW_1273, SW_0159, SW_1152, SW_1405, SW_1073, SW_1209, SW_0716, SW_1003, SW_1026, SW_1503, SW_0090, SW_0837

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)

esv2762298

Frequency

Sample Size	1109
Observed Gain	0
Observed Loss	79
Observed Complex	0
Frequency	n/a