Variant Details

Variant: essv4539847

Internal ID

7125479

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr19:45594708..45594858	hg38	UCSC Ensembl
Outer	chr19:45594537..45595016	hg38	UCSC Ensembl
Inner	chr19:46097966..46098116	hg19	UCSC Ensembl
Outer	chr19:46097795..46098274	hg19	UCSC Ensembl
Inner	chr19:50789806..50789956	hg18	UCSC Ensembl
Outer	chr19:50789635..50790114	hg18	UCSC Ensembl

Cytoband

19q13.32

Allele length

Assembly	Allele length
hg38	480
hg19	480
hg18	480

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv1941589

Supporting Variants

Samples

NA18507

Known Genes

GPR4

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)

essv4539847

Frequency

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