Variant Details

Variant: esv2293432

Internal ID

7964543

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr13:98068995..98069303	hg38	UCSC Ensembl
Outer	chr13:98068800..98069488	hg38	UCSC Ensembl
Inner	chr13:98721249..98721557	hg19	UCSC Ensembl
Outer	chr13:98721054..98721742	hg19	UCSC Ensembl
Inner	chr13:97519250..97519558	hg18	UCSC Ensembl
Outer	chr13:97519055..97519743	hg18	UCSC Ensembl

Cytoband

13q32.2

Allele length

Assembly	Allele length
hg38	689
hg19	689
hg18	689

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4855378

Samples

NA18507

Known Genes

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)

esv2293432

Frequency

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