Variant Details

Variant: essv4820912

Internal ID

7406544

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr20:44047493..44047884	hg38	UCSC Ensembl
Outer	chr20:44047302..44048074	hg38	UCSC Ensembl
Inner	chr20:42676133..42676524	hg19	UCSC Ensembl
Outer	chr20:42675942..42676714	hg19	UCSC Ensembl
Inner	chr20:42109547..42109938	hg18	UCSC Ensembl
Outer	chr20:42109356..42110128	hg18	UCSC Ensembl

Cytoband

20q13.12

Allele length

Assembly	Allele length
hg38	773
hg19	773
hg18	773

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv1996686

Supporting Variants

Samples

NA18507

Known Genes

TOX2

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)

essv4820912

Frequency

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