Variant Details

Variant: essv4980228

Internal ID

7565860

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr14:70971119..70971439	hg38	UCSC Ensembl
Outer	chr14:70970909..70971628	hg38	UCSC Ensembl
Inner	chr14:71437836..71438156	hg19	UCSC Ensembl
Outer	chr14:71437626..71438345	hg19	UCSC Ensembl
Inner	chr14:70507589..70507909	hg18	UCSC Ensembl
Outer	chr14:70507379..70508098	hg18	UCSC Ensembl

Cytoband

14q24.2

Allele length

Assembly	Allele length
hg38	720
hg19	720
hg18	720

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2229536

Supporting Variants

Samples

NA18507

Known Genes

PCNX

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)

essv4980228

Frequency

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