Variant Details

Variant: esv2234858

Internal ID

7905969

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr17:70450337..70450373	hg38	UCSC Ensembl
Outer	chr17:70450123..70450571	hg38	UCSC Ensembl
Inner	chr17:68446478..68446514	hg19	UCSC Ensembl
Outer	chr17:68446264..68446712	hg19	UCSC Ensembl
Inner	chr17:65958073..65958109	hg18	UCSC Ensembl
Outer	chr17:65957859..65958307	hg18	UCSC Ensembl

Cytoband

17q24.3

Allele length

Assembly	Allele length
hg38	449
hg19	449
hg18	449

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4757958

Samples

NA18507

Known Genes

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)

esv2234858

Frequency

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