Variant Details

Variant: esv2028726

Internal ID

7699837

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr13:29380635..29380940	hg38	UCSC Ensembl
Outer	chr13:29380422..29381148	hg38	UCSC Ensembl
Inner	chr13:29954772..29955077	hg19	UCSC Ensembl
Outer	chr13:29954559..29955285	hg19	UCSC Ensembl
Inner	chr13:28852772..28853077	hg18	UCSC Ensembl
Outer	chr13:28852559..28853285	hg18	UCSC Ensembl

Cytoband

13q12.3

Allele length

Assembly	Allele length
hg38	727
hg19	727
hg18	727

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4843239

Samples

NA18507

Known Genes

MTUS2

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)

esv2028726

Frequency

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