Variant Details

Variant: essv4583122

Internal ID

7168754

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chrX:79864710..79864785	hg38	UCSC Ensembl
Outer	chrX:79864516..79864981	hg38	UCSC Ensembl
Inner	chrX:79120210..79120285	hg19	UCSC Ensembl
Outer	chrX:79120016..79120481	hg19	UCSC Ensembl
Inner	chrX:79006866..79006941	hg18	UCSC Ensembl
Outer	chrX:79006672..79007137	hg18	UCSC Ensembl

Cytoband

Xq21.1

Allele length

Assembly	Allele length
hg38	466
hg19	466
hg18	466

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv1920316

Supporting Variants

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)

essv4583122

Frequency

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