Variant Details

Variant: esv2315224

Internal ID

7986335

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr18:39323838..39323925	hg38	UCSC Ensembl
Outer	chr18:39323679..39324094	hg38	UCSC Ensembl
Inner	chr18:36903802..36903889	hg19	UCSC Ensembl
Outer	chr18:36903643..36904058	hg19	UCSC Ensembl
Inner	chr18:35157800..35157887	hg18	UCSC Ensembl
Outer	chr18:35157641..35158056	hg18	UCSC Ensembl

Cytoband

18q12.2

Allele length

Assembly	Allele length
hg38	416
hg19	416
hg18	416

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4915506

Samples

NA18507

Known Genes

LINC00669

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)

esv2315224

Frequency

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