Variant Details

Variant: esv2130764

Internal ID

7801876

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr17:50350147..50350537	hg38	UCSC Ensembl
Outer	chr17:50349986..50350690	hg38	UCSC Ensembl
Inner	chr17:48427508..48427898	hg19	UCSC Ensembl
Outer	chr17:48427347..48428051	hg19	UCSC Ensembl
Inner	chr17:45782507..45782897	hg18	UCSC Ensembl
Outer	chr17:45782346..45783050	hg18	UCSC Ensembl

Cytoband

17q21.33

Allele length

Assembly	Allele length
hg38	705
hg19	705
hg18	705

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4819466

Samples

NA18507

Known Genes

XYLT2

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)

esv2130764

Frequency

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