Variant Details

Variant: essv4798817

Internal ID

7037763

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr20:37187181..37187519	hg38	UCSC Ensembl
Outer	chr20:37187005..37187670	hg38	UCSC Ensembl
Inner	chr20:35815584..35815922	hg19	UCSC Ensembl
Outer	chr20:35815408..35816073	hg19	UCSC Ensembl
Inner	chr20:35248998..35249336	hg18	UCSC Ensembl
Outer	chr20:35248822..35249487	hg18	UCSC Ensembl

Cytoband

20q11.23

Allele length

Assembly	Allele length
hg38	666
hg19	666
hg18	666

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2082246

Supporting Variants

Samples

NA18507

Known Genes

RPN2

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)

essv4798817

Frequency

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