Variant Details

Variant: essv4967511

Internal ID

7553143

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr5:91278886..91279180	hg38	UCSC Ensembl
Outer	chr5:91278702..91279376	hg38	UCSC Ensembl
Inner	chr5:90574703..90574997	hg19	UCSC Ensembl
Outer	chr5:90574519..90575193	hg19	UCSC Ensembl
Inner	chr5:90610459..90610753	hg18	UCSC Ensembl
Outer	chr5:90610275..90610949	hg18	UCSC Ensembl

Cytoband

5q14.3

Allele length

Assembly	Allele length
hg38	675
hg19	675
hg18	675

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv1961350

Supporting Variants

Samples

NA18507

Known Genes

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)

essv4967511

Frequency

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