Variant Details

Variant: dgv47e203

Internal ID

22760743

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr16:19929941..19960003	hg38	UCSC Ensembl
	chr16:19941263..19971325	hg19	UCSC Ensembl
	chr16:19848764..19878826	hg18	UCSC Ensembl

Cytoband

16p12.3

Allele length

Assembly	Allele length
hg38	30063
hg19	30063
hg18	30063

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2760438, esv2762210

Samples

SW_1290, RW_0169, SW_0509, SW_0813, SW_1377, SW_1400, SW_0832, SW_1108, SW_1412, SW_1170, SW_1402, SW_1063, SW_0030, SW_0835, SW_0059, SW_0184, SW_1433, SW_0158, RW_0239, SW_1199, SW_0146, RW_0196, RW_0010, SW_0003, SW_1141, RW_0268, SW_1042, RW_0152, RW_0178, SW_0578, RW_0104, SW_1246, SW_0846, SW_1409, SW_0149, RW_0141, RW_0006, SW_1033, RW_0134, SW_0570, SW_1078, RW_0629, RW_0022, SW_0691, RW_0098, SW_1216, SW_0647, RW_0255, SW_1261, SW_0116, SW_1302, SW_1124, SW_0099, RW_0617, RW_0503, SW_0818, SW_0200, SW_1455, SW_1221, SW_0786, SW_1305, SW_1285, RW_0082, RW_0113, SW_1391, RW_0246, RW_0304, SW_1253, SW_1337, SW_0185, SW_1309, RW_0112, SW_1393, SW_1476, SW_0005, SW_0525, SW_0369, SW_1153, SW_1468, SW_0817, SW_1243, RW_0506, RW_0577, RW_0541, SW_1355, SW_1165, SW_1190, SW_1569, SW_1102, RW_0575, SW_1107, RW_0643, SW_1172, SW_1084, SW_0313, SW_1043, SW_1527, SW_1034, RW_0608, SW_1370, RW_0618, RW_0601, SW_1465, SW_1389, SW_1148, SW_1122, SW_1198, RW_0593, RW_0296, SW_1356, SW_1079, SW_0076, SW_1075, SW_0703, SW_1274, SW_0271, RW_0597, SW_0091, RW_0534, SW_1295, SW_1059, RW_0260, SW_0843, SW_1277, RW_0056, SW_0187, RW_0106, SW_1415, RW_0609, SW_0775, RW_0120, SW_1374, SW_0339, RW_0564, SW_0379, SW_1378, SW_0061, RW_0622, RW_0080, RW_0235, SW_1478, RW_0663, SW_0103, SW_1517, SW_1116, SW_0186, SW_0673, SW_1139, RW_0117, RW_0164, SW_0018, SW_1520, SW_1505, SW_1096, SW_0820, SW_0001, RW_0154, SW_1180, RW_0627, RW_0050, SW_1008, SW_1137, SW_1201, RW_0263, SW_1509, SW_0159, SW_1128, SW_1392, SW_1175, SW_1484, SW_0790, SW_0585, RW_0590, SW_1511, RW_0034, SW_1203

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)

dgv47e203

Frequency

Sample Size	1109
Observed Gain	0
Observed Loss	176
Observed Complex	0
Frequency	n/a