Variant Details

Variant: esv2036557

Internal ID

7360982

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr16:88951038..88951354	hg38	UCSC Ensembl
Outer	chr16:88950982..88951422	hg38	UCSC Ensembl
Inner	chr16:89017446..89017762	hg19	UCSC Ensembl
Outer	chr16:89017390..89017830	hg19	UCSC Ensembl
Inner	chr16:87544947..87545263	hg18	UCSC Ensembl
Outer	chr16:87544891..87545331	hg18	UCSC Ensembl

Cytoband

16q24.3

Allele length

Assembly	Allele length
hg38	441
hg19	441
hg18	441

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4616947

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)

esv2036557

Frequency

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