Variant Details

Variant: esv2040336

Internal ID

7711447

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr8:120842517..120842821	hg38	UCSC Ensembl
Outer	chr8:120842306..120843023	hg38	UCSC Ensembl
Inner	chr8:121854757..121855061	hg19	UCSC Ensembl
Outer	chr8:121854546..121855263	hg19	UCSC Ensembl
Inner	chr8:121923938..121924242	hg18	UCSC Ensembl
Outer	chr8:121923727..121924444	hg18	UCSC Ensembl

Cytoband

8q24.12

Allele length

Assembly	Allele length
hg38	718
hg19	718
hg18	718

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4726047

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)

esv2040336

Frequency

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