Variant Details

Variant: esv2222789

Internal ID

7547214

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr3:133967837..133967915	hg38	UCSC Ensembl
Outer	chr3:133967643..133968104	hg38	UCSC Ensembl
Inner	chr3:133686681..133686759	hg19	UCSC Ensembl
Outer	chr3:133686487..133686948	hg19	UCSC Ensembl
Inner	chr3:135169371..135169449	hg18	UCSC Ensembl
Outer	chr3:135169177..135169638	hg18	UCSC Ensembl

Cytoband

3q22.1

Allele length

Assembly	Allele length
hg38	462
hg19	462
hg18	462

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4712118

Samples

NA18507

Known Genes

SLCO2A1

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)

esv2222789

Frequency

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