Variant Details

Variant: esv2313855

Internal ID

7638280

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr18:63635107..63653156	hg38	UCSC Ensembl
Outer	chr18:63635054..63653204	hg38	UCSC Ensembl
Inner	chr18:61302341..61320390	hg19	UCSC Ensembl
Outer	chr18:61302288..61320438	hg19	UCSC Ensembl
Inner	chr18:59453321..59471370	hg18	UCSC Ensembl
Outer	chr18:59453268..59471418	hg18	UCSC Ensembl

Cytoband

18q21.33

Allele length

Assembly	Allele length
hg38	18151
hg19	18151
hg18	18151

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4665780

Samples

NA18507

Known Genes

SERPINB4

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)

esv2313855

Frequency

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