Variant Details

Variant: esv1939300

Internal ID

7617209

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr8:69445394..69445820	hg38	UCSC Ensembl
Outer	chr8:69445351..69445897	hg38	UCSC Ensembl
Inner	chr8:70357629..70358055	hg19	UCSC Ensembl
Outer	chr8:70357586..70358132	hg19	UCSC Ensembl
Inner	chr8:70520183..70520609	hg18	UCSC Ensembl
Outer	chr8:70520140..70520686	hg18	UCSC Ensembl

Cytoband

8q13.2

Allele length

Assembly	Allele length
hg38	547
hg19	547
hg18	547

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4849276

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)

esv1939300

Frequency

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