Variant Details

Variant: esv2281404

Internal ID

7952515

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr3:123706749..123706786	hg38	UCSC Ensembl
Outer	chr3:123706562..123706976	hg38	UCSC Ensembl
Inner	chr3:123425596..123425633	hg19	UCSC Ensembl
Outer	chr3:123425409..123425823	hg19	UCSC Ensembl
Inner	chr3:124908286..124908323	hg18	UCSC Ensembl
Outer	chr3:124908099..124908513	hg18	UCSC Ensembl

Cytoband

3q21.1

Allele length

Assembly	Allele length
hg38	415
hg19	415
hg18	415

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4923675

Samples

NA18507

Known Genes

MYLK

Method

Sequencing

Analysis

Hierarchical clustering of anomalous readpairs was used to identify groupings of five or more readpairs that had a similar size and position. Read pairs were defined as anomalous if they had high-confidence alignments of each individual read that nevertheless were either incorrectly oriented or implied an insert size of at least 3 standard deviations outside the sample median.

Platform

Not specified

Comments

Reference

Bentley_et_al_2008

Pubmed ID

18987734

Accession Number(s)

esv2281404

Frequency

Sample Size	1
Observed Gain	0
Observed Loss	1
Observed Complex	0
Frequency	n/a