Variant Details

Variant: essv4735250

Internal ID

6974196

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr4:85570352..85570408	hg38	UCSC Ensembl
Outer	chr4:85570186..85570584	hg38	UCSC Ensembl
Inner	chr4:86491505..86491561	hg19	UCSC Ensembl
Outer	chr4:86491339..86491737	hg19	UCSC Ensembl
Inner	chr4:86710529..86710585	hg18	UCSC Ensembl
Outer	chr4:86710363..86710761	hg18	UCSC Ensembl

Cytoband

4q21.23

Allele length

Assembly	Allele length
hg38	399
hg19	399
hg18	399

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2228589

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)

essv4735250

Frequency

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