Variant Details

Variant: esv2378475

Internal ID

7702900

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr17:77487587..77487783	hg38	UCSC Ensembl
Outer	chr17:77487435..77487935	hg38	UCSC Ensembl
Inner	chr17:75483669..75483865	hg19	UCSC Ensembl
Outer	chr17:75483517..75484017	hg19	UCSC Ensembl
Inner	chr17:72995264..72995460	hg18	UCSC Ensembl
Outer	chr17:72995112..72995612	hg18	UCSC Ensembl

Cytoband

17q25.3

Allele length

Assembly	Allele length
hg38	501
hg19	501
hg18	501

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4965245

Samples

NA18507

Known Genes

SEPT9

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)

esv2378475

Frequency

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