Variant Details

Variant: esv2418352

Internal ID

8089463

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr16:19219123..19219460	hg38	UCSC Ensembl
Outer	chr16:19218925..19219671	hg38	UCSC Ensembl
Inner	chr16:19230445..19230782	hg19	UCSC Ensembl
Outer	chr16:19230247..19230993	hg19	UCSC Ensembl
Inner	chr16:19137946..19138283	hg18	UCSC Ensembl
Outer	chr16:19137748..19138494	hg18	UCSC Ensembl

Cytoband

16p12.3

Allele length

Assembly	Allele length
hg38	747
hg19	747
hg18	747

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4933781

Samples

NA18507

Known Genes

SYT17

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)

esv2418352

Frequency

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