Variant Details

Variant: esv2764022

Internal ID

10378058

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr7:109767968..109819717	hg38	UCSC Ensembl
Inner	chr7:109408025..109459774	hg19	UCSC Ensembl
Inner	chr7:109195261..109247010	hg18	UCSC Ensembl

Cytoband

7q31.1

Allele length

Assembly	Allele length
hg38	51750
hg19	51750
hg18	51750

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6991004, essv6991066, essv6991032, essv6991041, essv6991098, essv6991088, essv6991061, essv6991050, essv6991083, essv6991096, essv6990999, essv6991076, essv6991060, essv6991031, essv6991024, essv6991055, essv6991005, essv6991000, essv6991070, essv6991080, essv6991097, essv6991042, essv6991020, essv6991075, essv6991087, essv6991057, essv6991026, essv6991063, essv6991013, essv6991054, essv6991072, essv6991092, essv6991071, essv6991089, essv6991052, essv6991038, essv6991021, essv6991094, essv6991007, essv6991077, essv6991036, essv6991017, essv6991065, essv6991074, essv6991059, essv6991002, essv6991035, essv6991058, essv6991047, essv6991044, essv6991053, essv6991029, essv6991016, essv6991003, essv6991062, essv6991011, essv6991051, essv6991095, essv6991084, essv6991027, essv6991093, essv6991073, essv6991018, essv6991008, essv6991085, essv6991019, essv6991091, essv6991028, essv6991014, essv6991009, essv6991068, essv6991022, essv6991069, essv6991025, essv6991081, essv6991037, essv6991039, essv6991046, essv6991049, essv6991048, essv6991006, essv6991086, essv6991064, essv6991043, essv6991030, essv6991015, essv6991010, essv6991082, essv6991033, essv6991040

Samples

SW_1266, SW_1441, SW_1242, SW_0509, SW_1375, SW_1402, SW_1115, SW_0016, SW_1070, SW_0146, SW_1118, SW_0677, SW_1042, SW_0578, SW_1246, SW_1105, SW_0046, SW_1033, SW_0191, SW_1223, SW_0874, SW_1376, SW_1023, SW_1302, SW_1124, SW_0589, SW_1285, SW_0760, SW_1055, SW_0584, SW_1448, SW_1085, SW_1204, SW_0525, SW_0062, SW_1104, SW_1134, SW_1009, SW_1102, SW_1048, SW_1006, SW_0296, SW_1299, SW_1149, SW_1131, SW_1148, SW_1122, SW_1198, SW_1162, SW_1075, SW_0641, SW_0091, SW_0577, SW_1094, SW_1113, SW_1264, SW_0653, SW_0254, SW_0339, SW_1378, SW_1004, SW_0004, SW_1478, SW_0592, SW_1380, SW_0524, SW_1116, SW_0673, SW_0651, SW_0143, SW_0883, SW_1429, SW_1163, SW_1156, SW_1551, SW_0049, SW_0256, SW_1038, SW_1273, SW_0338, SW_0352, SW_0716, SW_1430

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)

esv2764022

Frequency

Sample Size	1109
Observed Gain	29
Observed Loss	54
Observed Complex	0
Frequency	n/a