Variant Details

Variant: dgv2e203

Internal ID

20126227

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr1:103556030..103761017	hg38	UCSC Ensembl
	chr1:104098652..104303639	hg19	UCSC Ensembl
	chr1:103900175..104105162	hg18	UCSC Ensembl

Cytoband

1p21.1

Allele length

Assembly	Allele length
hg38	204988
hg19	204988
hg18	204988

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2764261, esv2763658

Samples

SW_1451, RW_0123, SW_0509, SW_0057, RW_0071, SW_0813, SW_0832, RW_0203, SW_1210, SW_1366, SW_0145, RW_0292, SW_1439, SW_1402, SW_0635, SW_0885, RW_0010, SW_0623, SW_0072, SW_1259, RW_0359, SW_0607, SW_1042, SW_1409, SW_1105, SW_1314, SW_1325, SW_1330, RW_0180, SW_1065, RW_0658, SW_1020, RW_0586, RW_0283, SW_1398, SW_0647, RW_0179, RW_0315, RW_0503, SW_1361, SW_1221, SW_0786, SW_1413, SW_0785, SW_1337, SW_0048, RW_0131, RW_0112, RW_0616, RW_0506, RW_0147, SW_0019, SW_0803, SW_0313, SW_1149, SW_1270, SW_0859, RW_0318, RW_0280, RW_0221, SW_0554, SW_1370, RW_0596, RW_0601, RW_0346, RW_0175, SW_1417, SW_0089, SW_0368, RW_0281, SW_1335, RW_0607, RW_0524, RW_0210, RW_0571, RW_0333, RW_0193, SW_1182, SW_1113, SW_1482, RW_0195, SW_1374, SW_1101, RW_0166, SW_1112, SW_1230, SW_1510, RW_0080, SW_1478, SW_1318, SW_0323, RW_0529, SW_1068, SW_1517, RW_0335, SW_1074, SW_0651, RW_0119, SW_1156, SW_1045, RW_0149, SW_1571, SW_0822, SW_0170, RW_0031, RW_0079, SW_0009, SW_1087, SW_0160, SW_1424, SW_1384, SW_0256, SW_1317, SW_1119, SW_0148, RW_0266, SW_1003, RW_0590, SW_0569, RW_0630, RW_0208, SW_0884, SW_1242, SW_1372, RW_0237, SW_0286, SW_0201, RW_0087, SW_1021, RW_0148, SW_1412, SW_1257, SW_0030, SW_0835, SW_0199, SW_0158, SW_0575, SW_1080, SW_0102, SW_0063, SW_0164, RW_0634, RW_0178, SW_0846, RW_0606, SW_0175, SW_1457, SW_0086, RW_0168, SW_1054, RW_0116, SW_1114, SW_0020, RW_0511, SW_0609, RW_0617, SW_0032, SW_0015, SW_0888, SW_0702, SW_0200, SW_0189, SW_1455, SW_1285, SW_1109, SW_0760, SW_0121, SW_1263, RW_0357, SW_1448, SW_1322, SW_1469, SW_0369, RW_0293, SW_0648, RW_0577, SW_1408, SW_1190, SW_1028, RW_0004, SW_1523, SW_0073, RW_0061, SW_1284, SW_0789, SW_1395, RW_0005, SW_1043, SW_0661, RW_0505, SW_1527, RW_0567, RW_0286, RW_0002, SW_0002, RW_0593, RW_0299, SW_1162, RW_0666, SW_1130, RW_0211, SW_1228, SW_0271, RW_0597, RW_0129, SW_1140, SW_1012, RW_0260, SW_0017, SW_0187, RW_0249, SW_0653, RW_0564, SW_0103, SW_0006, RW_0186, RW_0190, SW_0186, RW_0013, SW_0883, RW_0275, RW_0132, RW_0220, RW_0215, SW_1163, RW_0238, RW_0045, SW_1240, RW_0128, SW_0049, RW_0613, RW_0014, SW_0717, RW_0652, SW_1509, SW_1386, RW_0209, SW_1152, SW_1147, RW_0063, RW_0018, SW_1484, RW_0508, RW_0207, RW_0084, SW_1213, SW_0844, RW_0213, SW_1430

Known Genes

ACTG1P4, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B

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)

dgv2e203

Frequency

Sample Size	1109
Observed Gain	153
Observed Loss	97
Observed Complex	0
Frequency	n/a