Variant Details

Variant: esv2070104

Internal ID

7741215

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr9:132421627..132421684	hg38	UCSC Ensembl
Outer	chr9:132421424..132421897	hg38	UCSC Ensembl
Inner	chr9:135297014..135297071	hg19	UCSC Ensembl
Outer	chr9:135296811..135297284	hg19	UCSC Ensembl
Inner	chr9:134286835..134286892	hg18	UCSC Ensembl
Outer	chr9:134286632..134287105	hg18	UCSC Ensembl

Cytoband

9q34.13

Allele length

Assembly	Allele length
hg38	474
hg19	474
hg18	474

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4808549

Samples

NA18507

Known Genes

C9orf171

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)

esv2070104

Frequency

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