Variant Details

Variant: essv4794577

Internal ID

7380209

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chrX:144761770..144762059	hg38	UCSC Ensembl
Outer	chrX:144761568..144762291	hg38	UCSC Ensembl
Inner	chrX:143843291..143843580	hg19	UCSC Ensembl
Outer	chrX:143843089..143843812	hg19	UCSC Ensembl
Inner	chrX:143650988..143651277	hg18	UCSC Ensembl
Outer	chrX:143650786..143651509	hg18	UCSC Ensembl

Cytoband

Xq27.3

Allele length

Assembly	Allele length
hg38	724
hg19	724
hg18	724

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2300577

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)

essv4794577

Frequency

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