Variant Details

Variant: essv4846760

Internal ID

7432392

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr3:120175139..120175596	hg38	UCSC Ensembl
Outer	chr3:120174943..120175768	hg38	UCSC Ensembl
Inner	chr3:119893986..119894443	hg19	UCSC Ensembl
Outer	chr3:119893790..119894615	hg19	UCSC Ensembl
Inner	chr3:121376676..121377133	hg18	UCSC Ensembl
Outer	chr3:121376480..121377305	hg18	UCSC Ensembl

Cytoband

3q13.33

Allele length

Assembly	Allele length
hg38	826
hg19	826
hg18	826

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2257745

Supporting Variants

Samples

NA18507

Known Genes

GPR156

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)

essv4846760

Frequency

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