Variant Details

Variant: esv2215307

Internal ID

7539732

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr22:43280796..43281006	hg38	UCSC Ensembl
Outer	chr22:43280670..43281091	hg38	UCSC Ensembl
Inner	chr22:43676802..43677012	hg19	UCSC Ensembl
Outer	chr22:43676676..43677097	hg19	UCSC Ensembl
Inner	chr22:42006746..42006956	hg18	UCSC Ensembl
Outer	chr22:42006620..42007041	hg18	UCSC Ensembl

Cytoband

22q13.2

Allele length

Assembly	Allele length
hg38	422
hg19	422
hg18	422

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4564289

Samples

NA18507

Known Genes

SCUBE1

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)

esv2215307

Frequency

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