Variant Details

Variant: esv2134507

Internal ID

7805618

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr6:158704841..158705081	hg38	UCSC Ensembl
Outer	chr6:158704670..158705146	hg38	UCSC Ensembl
Inner	chr6:159125873..159126113	hg19	UCSC Ensembl
Outer	chr6:159125702..159126178	hg19	UCSC Ensembl
Inner	chr6:159045861..159046101	hg18	UCSC Ensembl
Outer	chr6:159045690..159046166	hg18	UCSC Ensembl

Cytoband

6q25.3

Allele length

Assembly	Allele length
hg38	477
hg19	477
hg18	477

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4740778

Samples

NA18507

Known Genes

SYTL3

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)

esv2134507

Frequency

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