Variant Details

Variant: esv2092173

Internal ID

7416598

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr8:27322795..27322885	hg38	UCSC Ensembl
Outer	chr8:27322625..27323062	hg38	UCSC Ensembl
Inner	chr8:27180312..27180402	hg19	UCSC Ensembl
Outer	chr8:27180142..27180579	hg19	UCSC Ensembl
Inner	chr8:27236229..27236319	hg18	UCSC Ensembl
Outer	chr8:27236059..27236496	hg18	UCSC Ensembl

Cytoband

8p21.2

Allele length

Assembly	Allele length
hg38	438
hg19	438
hg18	438

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4681284

Samples

NA18507

Known Genes

PTK2B

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)

esv2092173

Frequency

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