Variant Details

Variant: esv1983529

Internal ID

7654640

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:168749624..168749699	hg38	UCSC Ensembl
Outer	chr2:168749458..168749872	hg38	UCSC Ensembl
Inner	chr2:169606134..169606209	hg19	UCSC Ensembl
Outer	chr2:169605968..169606382	hg19	UCSC Ensembl
Inner	chr2:169314380..169314455	hg18	UCSC Ensembl
Outer	chr2:169314214..169314628	hg18	UCSC Ensembl

Cytoband

2q24.3

Allele length

Assembly	Allele length
hg38	415
hg19	415
hg18	415

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4719120

Samples

NA18507

Known Genes

CERS6

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)

esv1983529

Frequency

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