Variant Details

Variant: essv4671604

Internal ID

6910550

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr8:51454960..51455129	hg38	UCSC Ensembl
Outer	chr8:51454755..51455336	hg38	UCSC Ensembl
Inner	chr8:52367520..52367689	hg19	UCSC Ensembl
Outer	chr8:52367315..52367896	hg19	UCSC Ensembl
Inner	chr8:52530073..52530242	hg18	UCSC Ensembl
Outer	chr8:52529868..52530449	hg18	UCSC Ensembl

Cytoband

8q11.22

Allele length

Assembly	Allele length
hg38	582
hg19	582
hg18	582

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2236053

Supporting Variants

Samples

NA18507

Known Genes

PXDNL

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)

essv4671604

Frequency

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