Variant Details

Variant: esv2246827

Internal ID

7917938

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chrX:1443252..1443465	hg38	UCSC Ensembl
Outer	chrX:1443158..1443538	hg38	UCSC Ensembl
Inner	chrX:1562145..1562358	hg19	UCSC Ensembl
Outer	chrX:1562051..1562431	hg19	UCSC Ensembl
Inner	chrX:1522145..1522358	hg18	UCSC Ensembl
Outer	chrX:1522051..1522431	hg18	UCSC Ensembl

Cytoband

Xp22.33

Allele length

Assembly	Allele length
hg38	381
hg19	381
hg18	381

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4673083

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)

esv2246827

Frequency

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