Variant Details

Variant: esv1925197

Internal ID

7590255

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr8:117968536..117968873	hg38	UCSC Ensembl
Outer	chr8:117968354..117969082	hg38	UCSC Ensembl
Inner	chr8:118980775..118981112	hg19	UCSC Ensembl
Outer	chr8:118980593..118981321	hg19	UCSC Ensembl
Inner	chr8:119049956..119050293	hg18	UCSC Ensembl
Outer	chr8:119049774..119050502	hg18	UCSC Ensembl

Cytoband

8q24.11

Allele length

Assembly	Allele length
hg38	729
hg19	729
hg18	729

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4798818

Samples

NA18507

Known Genes

EXT1

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)

esv1925197

Frequency

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