Variant Details

Variant: esv2399724

Internal ID

8070835

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr19:41894885..41894963	hg38	UCSC Ensembl
Outer	chr19:41894645..41895189	hg38	UCSC Ensembl
Inner	chr19:42398958..42399036	hg19	UCSC Ensembl
Outer	chr19:42398718..42399262	hg19	UCSC Ensembl
Inner	chr19:47090798..47090876	hg18	UCSC Ensembl
Outer	chr19:47090558..47091102	hg18	UCSC Ensembl

Cytoband

19q13.2

Allele length

Assembly	Allele length
hg38	545
hg19	545
hg18	545

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4937817

Samples

NA18507

Known Genes

ARHGEF1

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)

esv2399724

Frequency

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