Variant Details

Variant: essv4547558

Internal ID

7133190

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:108378043..108378173	hg38	UCSC Ensembl
Outer	chr2:108377834..108378382	hg38	UCSC Ensembl
Inner	chr2:108994499..108994629	hg19	UCSC Ensembl
Outer	chr2:108994290..108994838	hg19	UCSC Ensembl
Inner	chr2:108360931..108361061	hg18	UCSC Ensembl
Outer	chr2:108360722..108361270	hg18	UCSC Ensembl

Cytoband

2q12.3

Allele length

Assembly	Allele length
hg38	549
hg19	549
hg18	549

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2236049

Supporting Variants

Samples

NA18507

Known Genes

SULT1C4

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)

essv4547558

Frequency

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