Variant Details

Variant: esv1950322

Internal ID

7624659

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr14:21183123..21183510	hg38	UCSC Ensembl
Outer	chr14:21182931..21183567	hg38	UCSC Ensembl
Inner	chr14:21651282..21651669	hg19	UCSC Ensembl
Outer	chr14:21651090..21651726	hg19	UCSC Ensembl
Inner	chr14:20721122..20721509	hg18	UCSC Ensembl
Outer	chr14:20720930..20721566	hg18	UCSC Ensembl

Cytoband

14q11.2

Allele length

Assembly	Allele length
hg38	637
hg19	637
hg18	637

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4914580

Samples

NA18507

Known Genes

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)

esv1950322

Frequency

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