Variant Details

Variant: esv1961455

Internal ID

7285880

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr4:138045054..138046075	hg38	UCSC Ensembl
Outer	chr4:138044877..138046234	hg38	UCSC Ensembl
Inner	chr4:138966208..138967229	hg19	UCSC Ensembl
Outer	chr4:138966031..138967388	hg19	UCSC Ensembl
Inner	chr4:139185658..139186679	hg18	UCSC Ensembl
Outer	chr4:139185481..139186838	hg18	UCSC Ensembl

Cytoband

4q28.3

Allele length

Assembly	Allele length
hg38	1358
hg19	1358
hg18	1358

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4526303

Samples

NA18507

Known Genes

LINC00616

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)

esv1961455

Frequency

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