Variant Details

Variant: essv4820122

Internal ID

7059068

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr5:173608284..173609251	hg38	UCSC Ensembl
Outer	chr5:173608135..173609424	hg38	UCSC Ensembl
Inner	chr5:173035287..173036254	hg19	UCSC Ensembl
Outer	chr5:173035138..173036427	hg19	UCSC Ensembl
Inner	chr5:172967893..172968860	hg18	UCSC Ensembl
Outer	chr5:172967744..172969033	hg18	UCSC Ensembl

Cytoband

5q35.2

Allele length

Assembly	Allele length
hg38	1290
hg19	1290
hg18	1290

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2145234

Supporting Variants

Samples

NA18507

Known Genes

BOD1

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)

essv4820122

Frequency

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