Variant Details

Variant: esv2390306

Internal ID

8061417

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr10:79332426..79333022	hg38	UCSC Ensembl
Outer	chr10:79332253..79333192	hg38	UCSC Ensembl
Inner	chr10:81092183..81092779	hg19	UCSC Ensembl
Outer	chr10:81092010..81092949	hg19	UCSC Ensembl
Inner	chr10:80762189..80762785	hg18	UCSC Ensembl
Outer	chr10:80762016..80762955	hg18	UCSC Ensembl

Cytoband

10q22.3

Allele length

Assembly	Allele length
hg38	940
hg19	940
hg18	940

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4715716

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)

esv2390306

Frequency

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