Variant Details

Variant: esv2760346

Internal ID

10027709

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr14:105970998..106877229	hg38	UCSC Ensembl
Inner	chr14:106437087..107285437	hg19	UCSC Ensembl
Inner	chr14:105508132..106356482	hg18	UCSC Ensembl

Cytoband

14q32.33

Allele length

Assembly	Allele length
hg38	906232
hg19	848351
hg18	848351

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7022501, essv7022507, essv7022508, essv7022445, essv7022484, essv7022434, essv7022496, essv7022375, essv7022415, essv7022373, essv7022497, essv7022479, essv7022323, essv7022462, essv7022363, essv7022386, essv7022491, essv7022382, essv7022515, essv7022324, essv7022356, essv7022378, essv7022403, essv7022492, essv7022409, essv7022438, essv7022330, essv7022423, essv7022527, essv7022401, essv7022384, essv7022441, essv7022470, essv7022506, essv7022397, essv7022451, essv7022476, essv7022431, essv7022469, essv7022453, essv7022332, essv7022379, essv7022407, essv7022426, essv7022400, essv7022341, essv7022495, essv7022474, essv7022442, essv7022354, essv7022464, essv7022437, essv7022413, essv7022357, essv7022361, essv7022351, essv7022524, essv7022427, essv7022505, essv7022460, essv7022523, essv7022404, essv7022398, essv7022329, essv7022456, essv7022429, essv7022414, essv7022372, essv7022525, essv7022514, essv7022358, essv7022393, essv7022473, essv7022425, essv7022512, essv7022336, essv7022417, essv7022391, essv7022359, essv7022468, essv7022396, essv7022339, essv7022412, essv7022395, essv7022365, essv7022326, essv7022454, essv7022481, essv7022517, essv7022350, essv7022352, essv7022376, essv7022345, essv7022486, essv7022362, essv7022369, essv7022503, essv7022475, essv7022368, essv7022513, essv7022360, essv7022328, essv7022465, essv7022480, essv7022346, essv7022334, essv7022478, essv7022518, essv7022389, essv7022385, essv7022446, essv7022436, essv7022493, essv7022405, essv7022337, essv7022498, essv7022335, essv7022502, essv7022472, essv7022383, essv7022428, essv7022390, essv7022504, essv7022367, essv7022364, essv7022448, essv7022516, essv7022500, essv7022458, essv7022416, essv7022519, essv7022406, essv7022374, essv7022443, essv7022421, essv7022418, essv7022449, essv7022452, essv7022349, essv7022348, essv7022457, essv7022490, essv7022526, essv7022509, essv7022419, essv7022520, essv7022435, essv7022439, essv7022387, essv7022424, essv7022430, essv7022325, essv7022338, essv7022447, essv7022420, essv7022450, essv7022408, essv7022394, essv7022340, essv7022371, essv7022432, essv7022331, essv7022353, essv7022461, essv7022327, essv7022489, essv7022511, essv7022487, essv7022471, essv7022370, essv7022485, essv7022392, essv7022494, essv7022402, essv7022343, essv7022440, essv7022380, essv7022483, essv7022463, essv7022347, essv7022342, essv7022381, essv7022459, essv7022482, essv7022467

Samples

RW_0620, RW_0274, RW_0059, RW_0585, RW_0071, RW_0356, RW_0583, RW_0087, RW_0030, RW_0305, RW_0158, RW_0323, RW_0610, RW_0099, RW_0007, RW_0582, RW_0258, RW_0595, RW_0152, RW_0566, RW_0104, RW_0006, RW_0168, RW_0297, RW_0555, RW_0226, RW_0025, RW_0629, RW_0022, RW_0217, RW_0096, RW_0011, RW_0309, RW_0614, RW_0254, RW_0179, RW_0617, RW_0525, RW_0062, RW_0624, RW_0503, RW_0115, RW_0603, RW_0246, RW_0304, RW_0003, RW_0536, RW_0548, RW_0017, RW_0112, RW_0570, RW_0024, RW_0509, RW_0544, RW_0616, RW_0269, RW_0111, RW_0272, RW_0118, RW_0539, RW_0004, RW_0061, RW_0602, RW_0637, RW_0575, RW_0321, RW_0349, RW_0005, RW_0197, RW_0576, RW_0505, RW_0619, RW_0185, RW_0280, RW_0221, RW_0311, RW_0253, RW_0618, RW_0596, RW_0552, RW_0601, RW_0286, RW_0002, RW_0077, RW_0593, RW_0155, RW_0029, RW_0001, RW_0310, RW_0288, RW_0664, RW_0515, RW_0129, RW_0607, RW_0534, RW_0633, RW_0524, RW_0212, RW_0260, RW_0008, RW_0193, RW_0328, RW_0056, RW_0276, RW_0067, RW_0053, RW_0320, RW_0106, RW_0068, RW_0527, RW_0521, RW_0195, RW_0032, RW_0166, RW_0543, RW_0235, RW_0021, RW_0605, RW_0529, RW_0589, RW_0132, RW_0273, RW_0220, RW_0662, RW_0119, RW_0215, RW_0584, RW_0574, RW_0128, RW_0599, RW_0183, RW_0613, RW_0277, RW_0070, RW_0306, RW_0038, RW_0665, RW_0646, RW_0028, RW_0263, RW_0156, RW_0033, RW_0581, RW_0361, RW_0223, RW_0209, RW_0063, RW_0167, RW_0535, RW_0266, RW_0573, RW_0107, RW_0248, RW_0139, RW_0034, RW_0630, RW_0344, RW_0162, RW_0047

Known Genes

ADAM6, LINC00221, LINC00226

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)

esv2760346

Frequency

Sample Size	1109
Observed Gain	54
Observed Loss	117
Observed Complex	0
Frequency	n/a