Variant Details

Variant: esv1978492

Internal ID

7302917

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr17:74301849..74302118	hg38	UCSC Ensembl
Outer	chr17:74301730..74302245	hg38	UCSC Ensembl
Inner	chr17:72297988..72298257	hg19	UCSC Ensembl
Outer	chr17:72297869..72298384	hg19	UCSC Ensembl
Inner	chr17:69809583..69809852	hg18	UCSC Ensembl
Outer	chr17:69809464..69809979	hg18	UCSC Ensembl

Cytoband

17q25.1

Allele length

Assembly	Allele length
hg38	516
hg19	516
hg18	516

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4519377

Samples

NA18507

Known Genes

DNAI2

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)

esv1978492

Frequency

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