Variant Details

Variant: essv4920268

Internal ID

7505900

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chrX:148016025..148016282	hg38	UCSC Ensembl
Outer	chrX:148015953..148016336	hg38	UCSC Ensembl
Inner	chrX:147097545..147097802	hg19	UCSC Ensembl
Outer	chrX:147097473..147097856	hg19	UCSC Ensembl
Inner	chrX:146905237..146905494	hg18	UCSC Ensembl
Outer	chrX:146905165..146905548	hg18	UCSC Ensembl

Cytoband

Xq27.3

Allele length

Assembly	Allele length
hg38	384
hg19	384
hg18	384

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2122565

Supporting Variants

Samples

NA18507

Known Genes

FMR1NB

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)

essv4920268

Frequency

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