Variant Details

Variant: esv2373748

Internal ID

8044859

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chrX:22654458..22654762	hg38	UCSC Ensembl
Outer	chrX:22654255..22654954	hg38	UCSC Ensembl
Inner	chrX:22672575..22672879	hg19	UCSC Ensembl
Outer	chrX:22672372..22673071	hg19	UCSC Ensembl
Inner	chrX:22582496..22582800	hg18	UCSC Ensembl
Outer	chrX:22582293..22582992	hg18	UCSC Ensembl

Cytoband

Xp22.11

Allele length

Assembly	Allele length
hg38	700
hg19	700
hg18	700

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4509877

Samples

NA18507

Known Genes

LOC100873065

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)

esv2373748

Frequency

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