Variant Details

Variant: esv2760449

Internal ID

10376757

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr17:18410516..18606845	hg38	UCSC Ensembl
Inner	chr17:18313830..18510158	hg19	UCSC Ensembl
Inner	chr17:18254555..18450883	hg18	UCSC Ensembl

Cytoband

17p11.2

Allele length

Assembly	Allele length
hg38	196330
hg19	196329
hg18	196329

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

dgv55e203

Supporting Variants

essv7024177, essv7024243, essv7024231, essv7024195, essv7024194, essv7024220, essv7024152, essv7024188, essv7024242, essv7024211, essv7024224, essv7024174, essv7024154, essv7024205, essv7024209, essv7024186, essv7024161, essv7024221, essv7024204, essv7024207, essv7024185, essv7024184, essv7024187, essv7024232, essv7024225, essv7024241, essv7024235, essv7024192, essv7024228, essv7024236, essv7024222, essv7024160, essv7024151, essv7024193, essv7024214, essv7024179, essv7024157, essv7024191, essv7024158, essv7024172, essv7024198, essv7024216, essv7024213, essv7024171, essv7024169, essv7024162, essv7024233, essv7024155, essv7024163, essv7024217, essv7024208, essv7024210, essv7024175, essv7024244, essv7024165, essv7024153, essv7024215, essv7024218, essv7024176, essv7024226, essv7024197, essv7024248, essv7024199, essv7024227, essv7024203, essv7024166, essv7024246, essv7024229, essv7024170, essv7024180, essv7024249, essv7024237, essv7024238, essv7024239, essv7024181, essv7024173, essv7024196, essv7024150, essv7024168, essv7024164, essv7024200, essv7024250, essv7024247, essv7024230, essv7024183, essv7024148, essv7024149, essv7024182, essv7024206, essv7024219, essv7024240, essv7024202, essv7024159

Samples

RW_0620, RW_0059, RW_0071, RW_0237, RW_0087, RW_0636, RW_0644, RW_0148, RW_0591, RW_0553, RW_0039, RW_0046, RW_0610, RW_0256, RW_0262, RW_0268, RW_0258, RW_0178, RW_0606, RW_0205, RW_0656, RW_0226, RW_0192, RW_0511, RW_0510, RW_0315, RW_0533, RW_0115, RW_0536, RW_0121, RW_0631, RW_0577, RW_0541, RW_0519, RW_0639, RW_0114, RW_0540, RW_0023, RW_0118, RW_0659, RW_0651, RW_0600, RW_0505, RW_0253, RW_0608, RW_0618, RW_0593, RW_0155, RW_0299, RW_0296, RW_0204, RW_0001, RW_0310, RW_0653, RW_0257, RW_0260, RW_0210, RW_0008, RW_0193, RW_0276, RW_0088, RW_0578, RW_0067, RW_0249, RW_0053, RW_0235, RW_0663, RW_0190, RW_0048, RW_0132, RW_0164, RW_0119, RW_0215, RW_0238, RW_0128, RW_0599, RW_0149, RW_0154, RW_0031, RW_0079, RW_0014, RW_0652, RW_0144, RW_0351, RW_0063, RW_0167, RW_0508, RW_0266, RW_0336, RW_0060, RW_0139, RW_0344

Known Genes

CCDC144B, FAM106A, FLJ35934, KRT16P1, LGALS9C, LOC339240, USP32P2

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)

esv2760449

Frequency

Sample Size	1109
Observed Gain	28
Observed Loss	64
Observed Complex	0
Frequency	n/a