Variant Details

Variant: esv2017710

Internal ID

7342135

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr19:6441795..6441839	hg38	UCSC Ensembl
Outer	chr19:6441587..6442042	hg38	UCSC Ensembl
Inner	chr19:6441806..6441850	hg19	UCSC Ensembl
Outer	chr19:6441598..6442053	hg19	UCSC Ensembl
Inner	chr19:6392806..6392850	hg18	UCSC Ensembl
Outer	chr19:6392598..6393053	hg18	UCSC Ensembl

Cytoband

19p13.3

Allele length

Assembly	Allele length
hg38	456
hg19	456
hg18	456

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4558037

Samples

NA18507

Known Genes

SLC25A23

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)

esv2017710

Frequency

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