Variant Details

Variant: esv1978259

Internal ID

7649370

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr17:8343307..8344741	hg38	UCSC Ensembl
Outer	chr17:8343216..8344844	hg38	UCSC Ensembl
Inner	chr17:8246625..8248059	hg19	UCSC Ensembl
Outer	chr17:8246534..8248162	hg19	UCSC Ensembl
Inner	chr17:8187350..8188784	hg18	UCSC Ensembl
Outer	chr17:8187259..8188887	hg18	UCSC Ensembl

Cytoband

17p13.1

Allele length

Assembly	Allele length
hg38	1629
hg19	1629
hg18	1629

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4550335

Samples

NA18507

Known Genes

ODF4

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)

esv1978259

Frequency

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