Variant Details

Variant: esv2292197

Internal ID

7616622

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr6:44158971..44159023	hg38	UCSC Ensembl
Outer	chr6:44158787..44159191	hg38	UCSC Ensembl
Inner	chr6:44126708..44126760	hg19	UCSC Ensembl
Outer	chr6:44126524..44126928	hg19	UCSC Ensembl
Inner	chr6:44234686..44234738	hg18	UCSC Ensembl
Outer	chr6:44234502..44234906	hg18	UCSC Ensembl

Cytoband

6p21.1

Allele length

Assembly	Allele length
hg38	405
hg19	405
hg18	405

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4905883

Samples

NA18507

Known Genes

CAPN11

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)

esv2292197

Frequency

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