Variant Details

Variant: esv2349042

Internal ID

7673469

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr8:54059298..54059604	hg38	UCSC Ensembl
Outer	chr8:54059083..54059788	hg38	UCSC Ensembl
Inner	chr8:54971858..54972164	hg19	UCSC Ensembl
Outer	chr8:54971643..54972348	hg19	UCSC Ensembl
Inner	chr8:55134411..55134717	hg18	UCSC Ensembl
Outer	chr8:55134196..55134901	hg18	UCSC Ensembl

Cytoband

8q11.23

Allele length

Assembly	Allele length
hg38	706
hg19	706
hg18	706

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4607038

Samples

NA18507

Known Genes

LYPLA1

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)

esv2349042

Frequency

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