Variant Details

Variant: essv4743536

Internal ID

7329168

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr17:835702..836140	hg38	UCSC Ensembl
Outer	chr17:835537..836288	hg38	UCSC Ensembl
Inner	chr17:738942..739380	hg19	UCSC Ensembl
Outer	chr17:738777..739528	hg19	UCSC Ensembl
Inner	chr17:685692..686130	hg18	UCSC Ensembl
Outer	chr17:685527..686278	hg18	UCSC Ensembl

Cytoband

17p13.3

Allele length

Assembly	Allele length
hg38	752
hg19	752
hg18	752

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2187086

Supporting Variants

Samples

NA18507

Known Genes

NXN

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)

essv4743536

Frequency

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