Variant Details

Variant: esv2330845

Internal ID

7655270

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr22:43280385..43280495	hg38	UCSC Ensembl
Outer	chr22:43280215..43280672	hg38	UCSC Ensembl
Inner	chr22:43676391..43676501	hg19	UCSC Ensembl
Outer	chr22:43676221..43676678	hg19	UCSC Ensembl
Inner	chr22:42006335..42006445	hg18	UCSC Ensembl
Outer	chr22:42006165..42006622	hg18	UCSC Ensembl

Cytoband

22q13.2

Allele length

Assembly	Allele length
hg38	458
hg19	458
hg18	458

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4624393

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)

esv2330845

Frequency

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