Variant Details

Variant: essv4587617

Internal ID

7173249

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chrX:1609698..1610501	hg38	UCSC Ensembl
Outer	chrX:1609524..1610661	hg38	UCSC Ensembl
Inner	chrX:1728591..1729394	hg19	UCSC Ensembl
Outer	chrX:1728417..1729554	hg19	UCSC Ensembl
Inner	chrX:1688591..1689394	hg18	UCSC Ensembl
Outer	chrX:1688417..1689554	hg18	UCSC Ensembl

Cytoband

Xp22.33

Allele length

Assembly	Allele length
hg38	1138
hg19	1138
hg18	1138

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv1988316

Supporting Variants

Samples

NA18507

Known Genes

ASMT

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)

essv4587617

Frequency

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