Variant Details

Variant: esv2760688

Internal ID

10028050

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr12:746699..767080	hg38	UCSC Ensembl
Inner	chr12:855865..876246	hg19	UCSC Ensembl
Inner	chr12:726126..746507	hg18	UCSC Ensembl

Cytoband

12p13.33

Allele length

Assembly	Allele length
hg38	20382
hg19	20382
hg18	20382

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6996465, essv6996443, essv6996364, essv6996420, essv6996403, essv6996350, essv6996404, essv6996377, essv6996422, essv6996470, essv6996407, essv6996431, essv6996380, essv6996454, essv6996452, essv6996379, essv6996372, essv6996424, essv6996458, essv6996440, essv6996397, essv6996446, essv6996360, essv6996402, essv6996476, essv6996419, essv6996390, essv6996453, essv6996382, essv6996421, essv6996384, essv6996444, essv6996428, essv6996430, essv6996475, essv6996348, essv6996418, essv6996416, essv6996432, essv6996466, essv6996462, essv6996448, essv6996415, essv6996459, essv6996472, essv6996347, essv6996413, essv6996349, essv6996464, essv6996381, essv6996359, essv6996375, essv6996406, essv6996460, essv6996471, essv6996417, essv6996371, essv6996469, essv6996435, essv6996394, essv6996451, essv6996414, essv6996391, essv6996455, essv6996426, essv6996436, essv6996401, essv6996385, essv6996376, essv6996461, essv6996457, essv6996366, essv6996357, essv6996358, essv6996395, essv6996387, essv6996370, essv6996410, essv6996362, essv6996355, essv6996439, essv6996425, essv6996409, essv6996438, essv6996383, essv6996437, essv6996449, essv6996450, essv6996429, essv6996374, essv6996352, essv6996463, essv6996447, essv6996405, essv6996468, essv6996363, essv6996477, essv6996427, essv6996392, essv6996396, essv6996386, essv6996353, essv6996441, essv6996398, essv6996473, essv6996373, essv6996368, essv6996365, essv6996442, essv6996433, essv6996388, essv6996399, essv6996351, essv6996361, essv6996354, essv6996369, essv6996474, essv6996408, essv6996393

Samples

SW_1290, SW_0255, SW_1027, SW_0171, SW_1222, SW_0201, SW_0119, SW_1170, SW_1443, SW_1064, SW_0184, SW_1433, SW_0158, SW_1315, SW_1199, SW_0146, SW_1535, SW_0773, SW_0063, SW_0607, SW_1464, SW_0175, SW_1409, SW_0202, SW_1387, SW_0771, SW_1367, SW_0086, SW_1397, SW_1330, SW_0593, SW_0570, SW_1294, SW_1078, SW_0691, SW_1398, SW_1114, SW_0173, SW_1023, SW_0015, SW_0759, SW_0200, SW_1455, SW_0786, SW_0085, SW_0295, SW_1419, SW_0805, SW_0375, SW_1468, SW_1288, SW_0071, SW_0077, SW_1355, SW_1289, SW_0019, SW_1212, SW_0661, SW_0008, SW_0021, SW_1465, SW_0002, SW_1162, SW_0703, SW_0271, SW_1428, SW_1341, SW_1194, SW_0590, SW_0211, SW_0183, SW_1295, SW_0176, SW_0577, SW_0017, SW_1327, SW_1472, SW_1471, SW_0187, SW_0120, SW_1482, SW_1342, SW_1193, SW_0653, SW_1368, SW_0379, SW_0101, SW_1332, SW_1346, SW_0814, SW_1326, SW_0190, SW_1345, SW_1318, SW_1349, SW_1422, SW_1475, SW_1517, SW_0678, SW_0186, SW_0143, SW_1429, SW_1163, SW_0872, SW_0632, SW_1571, SW_0579, SW_0009, SW_1424, SW_1384, SW_1509, SW_0144, SW_0627, SW_0148, SW_0197, SW_0241, SW_1450, SW_0169, SW_0837

Known Genes

WNK1

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)

esv2760688

Frequency

Sample Size	1109
Observed Gain	0
Observed Loss	119
Observed Complex	0
Frequency	n/a