Variant Details

Variant: esv2764257

Internal ID

10031607

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr10:13014263..13022407	hg38	UCSC Ensembl
Inner	chr10:13056263..13064407	hg19	UCSC Ensembl
Inner	chr10:13096269..13104413	hg18	UCSC Ensembl

Cytoband

10p13

Allele length

Assembly	Allele length
hg38	8145
hg19	8145
hg18	8145

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6994424, essv6994419, essv6994430, essv6994425, essv6994428, essv6994435, essv6994421, essv6994427, essv6994420, essv6994433, essv6994416, essv6994417, essv6994431, essv6994415, essv6994432, essv6994429, essv6994414, essv6994426, essv6994422, essv6994436, essv6994418

Samples

SW_1086, SW_1433, SW_1168, SW_1051, SW_1314, SW_1223, SW_0802, SW_1013, SW_0702, SW_1431, SW_1258, SW_1547, SW_1149, SW_1371, SW_0021, SW_0323, SW_1074, SW_1313, SW_0198, SW_0603, SW_0090

Known Genes

CCDC3

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)

esv2764257

Frequency

Sample Size	1109
Observed Gain	0
Observed Loss	21
Observed Complex	0
Frequency	n/a