Variant Details

Variant: essv4565351

Internal ID

7150983

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr18:58134363..58134720	hg38	UCSC Ensembl
Outer	chr18:58134224..58134876	hg38	UCSC Ensembl
Inner	chr18:55801595..55801952	hg19	UCSC Ensembl
Outer	chr18:55801456..55802108	hg19	UCSC Ensembl
Inner	chr18:53952593..53952950	hg18	UCSC Ensembl
Outer	chr18:53952454..53953106	hg18	UCSC Ensembl

Cytoband

18q21.31

Allele length

Assembly	Allele length
hg38	653
hg19	653
hg18	653

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2006464

Supporting Variants

Samples

NA18507

Known Genes

NEDD4L

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)

essv4565351

Frequency

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