Variant Details

Variant: esv2348050

Internal ID

8019161

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr20:34528020..34528343	hg38	UCSC Ensembl
Outer	chr20:34527823..34528552	hg38	UCSC Ensembl
Inner	chr20:33115825..33116148	hg19	UCSC Ensembl
Outer	chr20:33115628..33116357	hg19	UCSC Ensembl
Inner	chr20:32579486..32579809	hg18	UCSC Ensembl
Outer	chr20:32579289..32580018	hg18	UCSC Ensembl

Cytoband

20q11.22

Allele length

Assembly	Allele length
hg38	730
hg19	730
hg18	730

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4954513

Samples

NA18507

Known Genes

DYNLRB1

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)

esv2348050

Frequency

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