Variant Details

Variant: esv2293557

Internal ID

7964668

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr12:3555811..3556011	hg38	UCSC Ensembl
Outer	chr12:3555670..3556153	hg38	UCSC Ensembl
Inner	chr12:3664977..3665177	hg19	UCSC Ensembl
Outer	chr12:3664836..3665319	hg19	UCSC Ensembl
Inner	chr12:3535238..3535438	hg18	UCSC Ensembl
Outer	chr12:3535097..3535580	hg18	UCSC Ensembl

Cytoband

12p13.32

Allele length

Assembly	Allele length
hg38	484
hg19	484
hg18	484

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4689098

Samples

NA18507

Known Genes

PRMT8

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)

esv2293557

Frequency

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