Variant Details

Variant: esv2106659

Internal ID

7431084

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr4:85696048..85696293	hg38	UCSC Ensembl
Outer	chr4:85695972..85696355	hg38	UCSC Ensembl
Inner	chr4:86617201..86617446	hg19	UCSC Ensembl
Outer	chr4:86617125..86617508	hg19	UCSC Ensembl
Inner	chr4:86836225..86836470	hg18	UCSC Ensembl
Outer	chr4:86836149..86836532	hg18	UCSC Ensembl

Cytoband

4q21.23

Allele length

Assembly	Allele length
hg38	384
hg19	384
hg18	384

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4530787

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)

esv2106659

Frequency

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