Variant Details

Variant: esv2382251

Internal ID

8053362

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr20:55859563..55865561	hg38	UCSC Ensembl
Outer	chr20:55859378..55865761	hg38	UCSC Ensembl
Inner	chr20:54434619..54440617	hg19	UCSC Ensembl
Outer	chr20:54434434..54440817	hg19	UCSC Ensembl
Inner	chr20:53868026..53874024	hg18	UCSC Ensembl
Outer	chr20:53867841..53874224	hg18	UCSC Ensembl

Cytoband

20q13.2

Allele length

Assembly	Allele length
hg38	6384
hg19	6384
hg18	6384

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4629741

Samples

NA18507

Known Genes

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)

esv2382251

Frequency

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