Variant Details

Variant: essv4797620

Internal ID

7036566

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr4:85541146..85541458	hg38	UCSC Ensembl
Outer	chr4:85540974..85541655	hg38	UCSC Ensembl
Inner	chr4:86462299..86462611	hg19	UCSC Ensembl
Outer	chr4:86462127..86462808	hg19	UCSC Ensembl
Inner	chr4:86681323..86681635	hg18	UCSC Ensembl
Outer	chr4:86681151..86681832	hg18	UCSC Ensembl

Cytoband

4q21.23

Allele length

Assembly	Allele length
hg38	682
hg19	682
hg18	682

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2234618

Supporting Variants

Samples

NA18507

Known Genes

ARHGAP24

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)

essv4797620

Frequency

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