Variant Details

Variant: esv1981196

Internal ID

7652307

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chrX:1453773..1453967	hg38	UCSC Ensembl
Outer	chrX:1453632..1454096	hg38	UCSC Ensembl
Inner	chrX:1572666..1572860	hg19	UCSC Ensembl
Outer	chrX:1572525..1572989	hg19	UCSC Ensembl
Inner	chrX:1532666..1532860	hg18	UCSC Ensembl
Outer	chrX:1532525..1532989	hg18	UCSC Ensembl

Cytoband

Xp22.33

Allele length

Assembly	Allele length
hg38	465
hg19	465
hg18	465

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4639211

Samples

NA18507

Known Genes

ASMTL

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)

esv1981196

Frequency

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