Variant Details

Variant: essv4872778

Internal ID

7111724

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr18:32131004..32131079	hg38	UCSC Ensembl
Outer	chr18:32130843..32131237	hg38	UCSC Ensembl
Inner	chr18:29710967..29711042	hg19	UCSC Ensembl
Outer	chr18:29710806..29711200	hg19	UCSC Ensembl
Inner	chr18:27964965..27965040	hg18	UCSC Ensembl
Outer	chr18:27964804..27965198	hg18	UCSC Ensembl

Cytoband

18q12.1

Allele length

Assembly	Allele length
hg38	395
hg19	395
hg18	395

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2141547

Supporting Variants

Samples

NA18507

Known Genes

RNF138

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)

essv4872778

Frequency

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