Variant Details

Variant: esv2296440

Internal ID

7620865

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr19:51346086..51346282	hg38	UCSC Ensembl
Outer	chr19:51345912..51346446	hg38	UCSC Ensembl
Inner	chr19:51849340..51849536	hg19	UCSC Ensembl
Outer	chr19:51849166..51849700	hg19	UCSC Ensembl
Inner	chr19:56541152..56541348	hg18	UCSC Ensembl
Outer	chr19:56540978..56541512	hg18	UCSC Ensembl

Cytoband

19q13.33

Allele length

Assembly	Allele length
hg38	535
hg19	535
hg18	535

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4693547

Samples

NA18507

Known Genes

ETFB

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)

esv2296440

Frequency

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