Variant Details

Variant: esv1964984

Internal ID

7636095

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr9:121879725..121879864	hg38	UCSC Ensembl
Outer	chr9:121879547..121880031	hg38	UCSC Ensembl
Inner	chr9:124642004..124642143	hg19	UCSC Ensembl
Outer	chr9:124641826..124642310	hg19	UCSC Ensembl
Inner	chr9:123681825..123681964	hg18	UCSC Ensembl
Outer	chr9:123681647..123682131	hg18	UCSC Ensembl

Cytoband

9q33.2

Allele length

Assembly	Allele length
hg38	485
hg19	485
hg18	485

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4994441

Samples

NA18507

Known Genes

MIR548AA1, MIR548D1, TTLL11

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)

esv1964984

Frequency

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