Variant Details

Variant: essv4511134

Internal ID

7096766

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr8:80307641..80307763	hg38	UCSC Ensembl
Outer	chr8:80307515..80307890	hg38	UCSC Ensembl
Inner	chr8:81219876..81219998	hg19	UCSC Ensembl
Outer	chr8:81219750..81220125	hg19	UCSC Ensembl
Inner	chr8:81382431..81382553	hg18	UCSC Ensembl
Outer	chr8:81382305..81382680	hg18	UCSC Ensembl

Cytoband

8q21.13

Allele length

Assembly	Allele length
hg38	376
hg19	376
hg18	376

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2320045

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)

essv4511134

Frequency

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