Variant Details

Variant: essv4549647

Internal ID

7135279

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr13:42181848..42182095	hg38	UCSC Ensembl
Outer	chr13:42181643..42182287	hg38	UCSC Ensembl
Inner	chr13:42755984..42756231	hg19	UCSC Ensembl
Outer	chr13:42755779..42756423	hg19	UCSC Ensembl
Inner	chr13:41653984..41654231	hg18	UCSC Ensembl
Outer	chr13:41653779..41654423	hg18	UCSC Ensembl

Cytoband

13q14.11

Allele length

Assembly	Allele length
hg38	645
hg19	645
hg18	645

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2150531

Supporting Variants

Samples

NA18507

Known Genes

DGKH

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)

essv4549647

Frequency

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