Variant Details

Variant: esv2085992

Internal ID

7410417

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr13:50022695..50022835	hg38	UCSC Ensembl
Outer	chr13:50022511..50023022	hg38	UCSC Ensembl
Inner	chr13:50596831..50596971	hg19	UCSC Ensembl
Outer	chr13:50596647..50597158	hg19	UCSC Ensembl
Inner	chr13:49494832..49494972	hg18	UCSC Ensembl
Outer	chr13:49494648..49495159	hg18	UCSC Ensembl

Cytoband

13q14.2

Allele length

Assembly	Allele length
hg38	512
hg19	512
hg18	512

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4851895

Samples

NA18507

Known Genes

DLEU2

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)

esv2085992

Frequency

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