Variant Details

Variant: esv2311590

Internal ID

7636015

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr17:80355741..80355966	hg38	UCSC Ensembl
Outer	chr17:80355693..80356023	hg38	UCSC Ensembl
Inner	chr17:78329541..78329766	hg19	UCSC Ensembl
Outer	chr17:78329493..78329823	hg19	UCSC Ensembl
Inner	chr17:75944136..75944361	hg18	UCSC Ensembl
Outer	chr17:75944088..75944418	hg18	UCSC Ensembl

Cytoband

17q25.3

Allele length

Assembly	Allele length
hg38	331
hg19	331
hg18	331

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4962518

Samples

NA18507

Known Genes

LOC100294362, RNF213

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)

esv2311590

Frequency

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