Variant Details

Variant: esv2761566

Internal ID

10028919

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr14:73526068..73589827	hg38	UCSC Ensembl
Inner	chr14:73992772..74056531	hg19	UCSC Ensembl
Inner	chr14:73062525..73126284	hg18	UCSC Ensembl

Cytoband

14q24.3

Allele length

Assembly	Allele length
hg38	63760
hg19	63760
hg18	63760

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6998650, essv6998658, essv6998668, essv6998657, essv6998664, essv6998654, essv6998643, essv6998676, essv6998673, essv6998648, essv6998649, essv6998674, essv6998641, essv6998653, essv6998660, essv6998652, essv6998640, essv6998661, essv6998670, essv6998642, essv6998646, essv6998669, essv6998666, essv6998671, essv6998665, essv6998662, essv6998644, essv6998675, essv6998663, essv6998659, essv6998672, essv6998651, essv6998655, essv6998647

Samples

SW_1167, SW_1162, SW_0639, SW_1377, SW_1570, SW_0803, SW_1170, SW_1095, SW_0606, SW_1102, SW_0121, SW_1021, SW_0624, SW_1081, SW_0099, SW_0701, SW_1424, SW_0007, SW_1282, SW_0836, SW_1126, SW_1220, SW_0008, SW_1285, SW_1211, SW_1079, SW_0775, SW_0578, SW_0847, SW_0660, SW_1062, SW_0017, SW_0175, SW_0313

Known Genes

ACOT1, ACOT2, HEATR4

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)

esv2761566

Frequency

Sample Size	1109
Observed Gain	14
Observed Loss	20
Observed Complex	0
Frequency	n/a