Variant Details

Variant: esv1987108

Internal ID

7311533

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr20:35128205..35129068	hg38	UCSC Ensembl
Outer	chr20:35128152..35129122	hg38	UCSC Ensembl
Inner	chr20:33716008..33716871	hg19	UCSC Ensembl
Outer	chr20:33715955..33716925	hg19	UCSC Ensembl
Inner	chr20:33179669..33180532	hg18	UCSC Ensembl
Outer	chr20:33179616..33180586	hg18	UCSC Ensembl

Cytoband

20q11.22

Allele length

Assembly	Allele length
hg38	971
hg19	971
hg18	971

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4648006

Samples

NA18507

Known Genes

EDEM2

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)

esv1987108

Frequency

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