Variant Details

Variant: esv2265006

Internal ID

7936117

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr14:81130704..81131014	hg38	UCSC Ensembl
Outer	chr14:81130497..81131210	hg38	UCSC Ensembl
Inner	chr14:81597048..81597358	hg19	UCSC Ensembl
Outer	chr14:81596841..81597554	hg19	UCSC Ensembl
Inner	chr14:80666801..80667111	hg18	UCSC Ensembl
Outer	chr14:80666594..80667307	hg18	UCSC Ensembl

Cytoband

14q31.1

Allele length

Assembly	Allele length
hg38	714
hg19	714
hg18	714

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4949118

Samples

NA18507

Known Genes

TSHR

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)

esv2265006

Frequency

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