Variant Details

Variant: esv2760524

Internal ID

10027887

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr19:42733459..43301176	hg38	UCSC Ensembl
Inner	chr19:43237611..43805328	hg19	UCSC Ensembl
Inner	chr19:47929451..48497168	hg18	UCSC Ensembl

Cytoband

19q13.2

Allele length

Assembly	Allele length
hg38	567718
hg19	567718
hg18	567718

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

dgv73e203

Supporting Variants

essv7025673, essv7025742, essv7025734, essv7025749, essv7025748, essv7025740, essv7025762, essv7025760, essv7025710, essv7025718, essv7025727, essv7025771, essv7025758, essv7025690, essv7025729, essv7025726, essv7025679, essv7025681, essv7025766, essv7025686, essv7025685, essv7025697, essv7025675, essv7025713, essv7025763, essv7025751, essv7025682, essv7025674, essv7025708, essv7025692, essv7025701, essv7025776, essv7025731, essv7025765, essv7025696, essv7025764, essv7025691, essv7025680, essv7025738, essv7025757, essv7025694, essv7025724, essv7025721, essv7025730, essv7025768, essv7025720, essv7025698, essv7025755, essv7025752, essv7025723, essv7025715, essv7025747, essv7025693, essv7025702, essv7025772, essv7025725, essv7025676, essv7025732, essv7025709, essv7025774, essv7025728, essv7025759, essv7025743, essv7025739, essv7025746, essv7025687, essv7025677, essv7025761, essv7025777, essv7025683, essv7025712, essv7025741, essv7025773, essv7025705, essv7025684, essv7025753, essv7025735, essv7025736, essv7025750, essv7025703, essv7025704, essv7025699, essv7025769, essv7025775, essv7025688, essv7025754, essv7025737, essv7025706, essv7025695, essv7025707, essv7025717, essv7025714, essv7025716, essv7025770, essv7025719

Samples

RW_0123, RW_0087, RW_0010, RW_0099, RW_0262, RW_0104, RW_0314, RW_0187, RW_0141, RW_0006, RW_0146, RW_0354, RW_0243, RW_0189, RW_0180, RW_0202, RW_0022, RW_0254, RW_0271, RW_0137, RW_0216, RW_0115, RW_0218, RW_0502, RW_0024, RW_0544, RW_0161, RW_0233, RW_0506, RW_0592, RW_0111, RW_0659, RW_0637, RW_0321, RW_0349, RW_0094, RW_0546, RW_0311, RW_0253, RW_0346, RW_0002, RW_0214, RW_0611, RW_0299, RW_0211, RW_0177, RW_0029, RW_0250, RW_0310, RW_0625, RW_0257, RW_0064, RW_0607, RW_0251, RW_0307, RW_0328, RW_0578, RW_0036, RW_0106, RW_0231, RW_0194, RW_0068, RW_0527, RW_0523, RW_0120, RW_0341, RW_0543, RW_0235, RW_0273, RW_0229, RW_0149, RW_0627, RW_0518, RW_0306, RW_0612, RW_0263, RW_0033, RW_0581, RW_0223, RW_0110, RW_0063, RW_0554, RW_0336, RW_0084, RW_0594

Known Genes

LOC100289650, LOC284344, PSG1, PSG10P, PSG11, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG8, PSG9

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)

esv2760524

Frequency

Sample Size	1109
Observed Gain	32
Observed Loss	58
Observed Complex	0
Frequency	n/a