Variant Details

Variant: essv4583641

Internal ID

7169273

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr5:176591604..176591817	hg38	UCSC Ensembl
Outer	chr5:176591556..176591858	hg38	UCSC Ensembl
Inner	chr5:176018605..176018818	hg19	UCSC Ensembl
Outer	chr5:176018557..176018859	hg19	UCSC Ensembl
Inner	chr5:175951211..175951424	hg18	UCSC Ensembl
Outer	chr5:175951163..175951465	hg18	UCSC Ensembl

Cytoband

5q35.2

Allele length

Assembly	Allele length
hg38	303
hg19	303
hg18	303

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2341441

Supporting Variants

Samples

NA18507

Known Genes

CDHR2

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)

essv4583641

Frequency

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