Variant Details

Variant: esv2105474

Internal ID

7776586

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:239280887..239281250	hg38	UCSC Ensembl
Outer	chr2:239280835..239281312	hg38	UCSC Ensembl
Inner	chr2:240202583..240202946	hg19	UCSC Ensembl
Outer	chr2:240202531..240203008	hg19	UCSC Ensembl
Inner	chr2:239867520..239867883	hg18	UCSC Ensembl
Outer	chr2:239867468..239867945	hg18	UCSC Ensembl

Cytoband

2q37.3

Allele length

Assembly	Allele length
hg38	478
hg19	478
hg18	478

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4986486

Samples

NA18507

Known Genes

HDAC4

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)

esv2105474

Frequency

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