Variant Details

Variant: esv2762187

Internal ID

10374985

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:105470132..105594291	hg38	UCSC Ensembl
Inner	chr1:106012754..106136913	hg19	UCSC Ensembl
Inner	chr1:105814277..105938436	hg18	UCSC Ensembl

Cytoband

1p21.1

Allele length

Assembly	Allele length
hg38	124160
hg19	124160
hg18	124160

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6991645, essv6992456, essv6991923, essv6991622, essv6991745, essv6992212, essv6992145, essv6991844, essv6992056, essv6991500, essv6992434, essv6991689, essv6991901, essv6992489, essv6992289, essv6991722, essv6992400, essv6991833, essv6992445, essv6992123, essv6992223, essv6991945, essv6992423, essv6991634, essv6992278, essv6991979, essv6992156, essv6992356, essv6991800, essv6991523, essv6992323, essv6991656, essv6992378, essv6992067, essv6991956, essv6991567, essv6992312, essv6991789, essv6991589, essv6992178, essv6992234, essv6992345, essv6992001, essv6992412, essv6991545, essv6992090, essv6992101, essv6992301, essv6991879, essv6992511, essv6992500, essv6992034, essv6992334, essv6992201, essv6991822, essv6991857, essv6992523, essv6992134, essv6991767, essv6992045, essv6992467, essv6991934, essv6991678, essv6991611, essv6992245, essv6992023, essv6992012, essv6992167, essv6992079, essv6992478, essv6991711, essv6991968, essv6991912, essv6991578, essv6991700, essv6992190, essv6991811, essv6992389, essv6991534, essv6991667, essv6991600, essv6991511, essv6991868, essv6991890, essv6992367, essv6992256, essv6992112, essv6991556, essv6991990, essv6992267, essv6991733, essv6991778, essv6991756

Samples

SW_0841, SW_0509, SW_0813, SW_1030, SW_0835, SW_0635, SW_1111, SW_1017, SW_1081, SW_1166, SW_1315, SW_1225, SW_1042, SW_1244, SW_1460, SW_1365, SW_1324, SW_1287, SW_1105, SW_1132, SW_1184, SW_1100, SW_0191, SW_1174, SW_0029, SW_1197, SW_0834, SW_1013, SW_1261, SW_1302, SW_1124, SW_0702, SW_1361, SW_1570, SW_0786, SW_1413, SW_0760, SW_1269, SW_0785, SW_1253, SW_0060, SW_1476, SW_1466, SW_0071, SW_1048, SW_1284, SW_1395, SW_1144, SW_0715, SW_1508, SW_1120, SW_0628, SW_1389, SW_0002, SW_1543, SW_1356, SW_1130, SW_1079, SW_0044, SW_1093, SW_0211, SW_0176, SW_1072, SW_0619, SW_1113, SW_0871, SW_0007, SW_1332, SW_0829, SW_0814, SW_1326, SW_1345, SW_0186, SW_0606, SW_0883, SW_1156, SW_1039, SW_0001, SW_0822, SW_0049, SW_1217, SW_1384, SW_1308, SW_1038, SW_1317, SW_0159, SW_1147, SW_0338, SW_1267, SW_0716, SW_0100, SW_0624

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)

esv2762187

Frequency

Sample Size	1109
Observed Gain	4
Observed Loss	88
Observed Complex	0
Frequency	n/a