Variant Details

Variant: essv4543680

Internal ID

6782626

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr16:24852832..24852963	hg38	UCSC Ensembl
Outer	chr16:24852717..24853073	hg38	UCSC Ensembl
Inner	chr16:24864153..24864284	hg19	UCSC Ensembl
Outer	chr16:24864038..24864394	hg19	UCSC Ensembl
Inner	chr16:24771654..24771785	hg18	UCSC Ensembl
Outer	chr16:24771539..24771895	hg18	UCSC Ensembl

Cytoband

16p12.1

Allele length

Assembly	Allele length
hg38	357
hg19	357
hg18	357

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2415734

Supporting Variants

Samples

NA18507

Known Genes

SLC5A11

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)

essv4543680

Frequency

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