Variant Details

Variant: esv2764098

Internal ID

10031448

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr8:7102311..8743201	hg38	UCSC Ensembl
Inner	chr8:6959833..8600711	hg19	UCSC Ensembl
Inner	chr8:6947243..8638121	hg18	UCSC Ensembl

Cytoband

8p23.1

Allele length

Assembly	Allele length
hg38	1640891
hg19	1640879
hg18	1690879

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6992348, essv6992281, essv6992266, essv6992372, essv6992251, essv6992311, essv6992369, essv6992355, essv6992344, essv6992324, essv6992314, essv6992359, essv6992319, essv6992326, essv6992260, essv6992318, essv6992241, essv6992357, essv6992328, essv6992383, essv6992341, essv6992259, essv6992292, essv6992320, essv6992366, essv6992252, essv6992247, essv6992272, essv6992276, essv6992258, essv6992374, essv6992354, essv6992346, essv6992304, essv6992309, essv6992335, essv6992349, essv6992255, essv6992377, essv6992352, essv6992337, essv6992313, essv6992384, essv6992287, essv6992347, essv6992249, essv6992336, essv6992343, essv6992307, essv6992296, essv6992376, essv6992358, essv6992327, essv6992243, essv6992293, essv6992371, essv6992381, essv6992280, essv6992365, essv6992329, essv6992254, essv6992303, essv6992283, essv6992270, essv6992368, essv6992315, essv6992298, essv6992321, essv6992277, essv6992351, essv6992325, essv6992282, essv6992340, essv6992342, essv6992275, essv6992284, essv6992279, essv6992274, essv6992269, essv6992310, essv6992244, essv6992370, essv6992302, essv6992308, essv6992264, essv6992333, essv6992317, essv6992291, essv6992350, essv6992331, essv6992316, essv6992253, essv6992297, essv6992261, essv6992338, essv6992257, essv6992362, essv6992262, essv6992363, essv6992322, essv6992294, essv6992248, essv6992360, essv6992290, essv6992263, essv6992379, essv6992306, essv6992364, essv6992285, essv6992353, essv6992242, essv6992339, essv6992265, essv6992382, essv6992271, essv6992250, essv6992361, essv6992286, essv6992273, essv6992332, essv6992330, essv6992375, essv6992288, essv6992268, essv6992299, essv6992246, essv6992380, essv6992305, essv6992295, essv6992373

Samples

SW_1224, SW_0638, SW_1242, SW_0255, SW_0285, SW_1400, SW_1021, SW_1439, SW_0199, SW_1064, SW_1081, SW_0885, SW_1166, SW_0575, SW_1315, SW_0146, SW_0072, SW_1234, SW_1188, SW_1141, SW_1080, SW_1436, SW_0102, SW_0063, SW_0257, SW_0639, SW_1051, SW_1287, SW_1033, SW_1232, SW_1330, SW_0660, SW_1398, SW_0647, SW_0173, SW_1252, SW_0800, SW_0816, SW_0200, SW_0189, SW_0311, SW_0828, SW_0085, SW_1305, SW_1126, SW_1057, SW_1456, SW_1269, SW_1167, SW_0227, SW_1393, SW_1547, SW_1288, SW_1196, SW_1134, SW_0268, SW_1523, SW_0296, SW_0538, SW_1084, SW_1043, SW_1040, SW_0665, SW_0008, SW_0058, SW_1148, SW_0002, SW_1110, SW_1162, SW_1079, SW_0076, SW_1093, SW_0271, SW_0590, SW_0535, SW_0215, SW_1047, SW_1059, SW_0577, SW_1182, SW_1278, SW_0576, SW_1193, SW_0775, SW_0253, SW_0101, SW_1306, SW_1004, SW_1422, SW_0103, SW_1116, SW_0186, SW_1480, SW_1313, SW_1142, SW_1163, SW_0634, SW_0822, SW_0049, SW_0170, SW_0243, SW_0160, SW_1384, SW_1137, SW_0256, SW_0717, SW_1308, SW_1279, SW_1317, SW_1229, SW_0144, SW_1119, SW_0148, SW_1364, SW_0716, SW_1090, SW_0241

Known Genes

CLDN23, DEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66B, FAM66E, FAM86B3P, FAM90A10P, FAM90A7P, LINC00965, MIR548I3, PRR23D1, PRR23D2, SGK223, SPAG11A, SPAG11B, USP17L1P, USP17L3, USP17L4, USP17L8, ZNF705B, ZNF705G

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)

esv2764098

Frequency

Sample Size	1109
Observed Gain	77
Observed Loss	44
Observed Complex	0
Frequency	n/a