Variant Details

Variant: essv4522124

Internal ID

7107756

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chrX:139075835..139076011	hg38	UCSC Ensembl
Outer	chrX:139075632..139076207	hg38	UCSC Ensembl
Inner	chrX:138157997..138158173	hg19	UCSC Ensembl
Outer	chrX:138157794..138158369	hg19	UCSC Ensembl
Inner	chrX:137985663..137985839	hg18	UCSC Ensembl
Outer	chrX:137985460..137986035	hg18	UCSC Ensembl

Cytoband

Xq27.1

Allele length

Assembly	Allele length
hg38	576
hg19	576
hg18	576

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2385287

Supporting Variants

Samples

NA18507

Known Genes

FGF13

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)

essv4522124

Frequency

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