Variant Details

Variant: essv4592659

Internal ID

6831605

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:54466361..54466603	hg38	UCSC Ensembl
Outer	chr2:54466145..54466811	hg38	UCSC Ensembl
Inner	chr2:54693498..54693740	hg19	UCSC Ensembl
Outer	chr2:54693282..54693948	hg19	UCSC Ensembl
Inner	chr2:54547002..54547244	hg18	UCSC Ensembl
Outer	chr2:54546786..54547452	hg18	UCSC Ensembl

Cytoband

2p16.2

Allele length

Assembly	Allele length
hg38	667
hg19	667
hg18	667

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2263133

Supporting Variants

Samples

NA18507

Known Genes

SPTBN1

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)

essv4592659

Frequency

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