Variant Details

Variant: esv2314773

Internal ID

7985884

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chrX:1596556..1596757	hg38	UCSC Ensembl
Outer	chrX:1596497..1596828	hg38	UCSC Ensembl
Inner	chrX:1715449..1715650	hg19	UCSC Ensembl
Outer	chrX:1715390..1715721	hg19	UCSC Ensembl
Inner	chrX:1675449..1675650	hg18	UCSC Ensembl
Outer	chrX:1675390..1675721	hg18	UCSC Ensembl

Cytoband

Xp22.33

Allele length

Assembly	Allele length
hg38	332
hg19	332
hg18	332

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4663172

Samples

NA18507

Known Genes

AKAP17A, 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)

esv2314773

Frequency

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