Variant Details

Variant: essv4798906

Internal ID

7037852

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr17:73192830..73192930	hg38	UCSC Ensembl
Outer	chr17:73192665..73193096	hg38	UCSC Ensembl
Inner	chr17:71188969..71189069	hg19	UCSC Ensembl
Outer	chr17:71188804..71189235	hg19	UCSC Ensembl
Inner	chr17:68700564..68700664	hg18	UCSC Ensembl
Outer	chr17:68700399..68700830	hg18	UCSC Ensembl

Cytoband

17q25.1

Allele length

Assembly	Allele length
hg38	432
hg19	432
hg18	432

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2104946

Supporting Variants

Samples

NA18507

Known Genes

COG1

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)

essv4798906

Frequency

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