Variant Details

Variant: essv4553920

Internal ID

6792866

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr5:173609345..173613138	hg38	UCSC Ensembl
Outer	chr5:173609254..173613206	hg38	UCSC Ensembl
Inner	chr5:173036348..173040141	hg19	UCSC Ensembl
Outer	chr5:173036257..173040209	hg19	UCSC Ensembl
Inner	chr5:172968954..172972747	hg18	UCSC Ensembl
Outer	chr5:172968863..172972815	hg18	UCSC Ensembl

Cytoband

5q35.2

Allele length

Assembly	Allele length
hg38	3953
hg19	3953
hg18	3953

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2184384

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)

essv4553920

Frequency

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