Variant Details

Variant: esv2342892

Internal ID

8014003

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chrX:41072874..41073539	hg38	UCSC Ensembl
Outer	chrX:41072687..41073710	hg38	UCSC Ensembl
Inner	chrX:40932127..40932792	hg19	UCSC Ensembl
Outer	chrX:40931940..40932963	hg19	UCSC Ensembl
Inner	chrX:40817071..40817736	hg18	UCSC Ensembl
Outer	chrX:40816884..40817907	hg18	UCSC Ensembl

Cytoband

Xp11.4

Allele length

Assembly	Allele length
hg38	1024
hg19	1024
hg18	1024

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4775849

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)

esv2342892

Frequency

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