Variant Details

Variant: esv1995539

Internal ID

7319964

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr10:116064034..116064066	hg38	UCSC Ensembl
Outer	chr10:116063839..116064251	hg38	UCSC Ensembl
Inner	chr10:117823545..117823577	hg19	UCSC Ensembl
Outer	chr10:117823350..117823762	hg19	UCSC Ensembl
Inner	chr10:117813535..117813567	hg18	UCSC Ensembl
Outer	chr10:117813340..117813752	hg18	UCSC Ensembl

Cytoband

10q25.3

Allele length

Assembly	Allele length
hg38	413
hg19	413
hg18	413

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4632978

Samples

NA18507

Known Genes

GFRA1

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)

esv1995539

Frequency

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