Variant Details

Variant: essv4534554

Internal ID

7120186

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr5:122938659..122938971	hg38	UCSC Ensembl
Outer	chr5:122938456..122939178	hg38	UCSC Ensembl
Inner	chr5:122274354..122274666	hg19	UCSC Ensembl
Outer	chr5:122274151..122274873	hg19	UCSC Ensembl
Inner	chr5:122302253..122302565	hg18	UCSC Ensembl
Outer	chr5:122302050..122302772	hg18	UCSC Ensembl

Cytoband

5q23.2

Allele length

Assembly	Allele length
hg38	723
hg19	723
hg18	723

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2095337

Supporting Variants

Samples

NA18507

Known Genes

SNX24

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)

essv4534554

Frequency

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