Variant Details

Variant: esv2078105

Internal ID

7402530

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr16:88954289..88954439	hg38	UCSC Ensembl
Outer	chr16:88954180..88954562	hg38	UCSC Ensembl
Inner	chr16:89020697..89020847	hg19	UCSC Ensembl
Outer	chr16:89020588..89020970	hg19	UCSC Ensembl
Inner	chr16:87548198..87548348	hg18	UCSC Ensembl
Outer	chr16:87548089..87548471	hg18	UCSC Ensembl

Cytoband

16q24.3

Allele length

Assembly	Allele length
hg38	383
hg19	383
hg18	383

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4539781

Samples

NA18507

Known Genes

CBFA2T3

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)

esv2078105

Frequency

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