Variant Details

Variant: essv4535457

Internal ID

6774403

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr8:19233911..19234262	hg38	UCSC Ensembl
Outer	chr8:19233714..19234328	hg38	UCSC Ensembl
Inner	chr8:19091421..19091772	hg19	UCSC Ensembl
Outer	chr8:19091224..19091838	hg19	UCSC Ensembl
Inner	chr8:19135701..19136052	hg18	UCSC Ensembl
Outer	chr8:19135504..19136118	hg18	UCSC Ensembl

Cytoband

8p21.3

Allele length

Assembly	Allele length
hg38	615
hg19	615
hg18	615

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv1958427

Supporting Variants

Samples

NA18507

Known Genes

LOC100128993

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)

essv4535457

Frequency

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