Variant Details

Variant: esv2396678

Internal ID

8067789

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr15:64340992..64341402	hg38	UCSC Ensembl
Outer	chr15:64340901..64341509	hg38	UCSC Ensembl
Inner	chr15:64633191..64633601	hg19	UCSC Ensembl
Outer	chr15:64633100..64633708	hg19	UCSC Ensembl
Inner	chr15:62420244..62420654	hg18	UCSC Ensembl
Outer	chr15:62420153..62420761	hg18	UCSC Ensembl

Cytoband

15q22.31

Allele length

Assembly	Allele length
hg38	609
hg19	609
hg18	609

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4763950

Samples

NA18507

Known Genes

CSNK1G1

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)

esv2396678

Frequency

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