Variant Details

Variant: esv2286878

Internal ID

7611303

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr17:75558835..75558935	hg38	UCSC Ensembl
Outer	chr17:75558686..75559075	hg38	UCSC Ensembl
Inner	chr17:73554916..73555016	hg19	UCSC Ensembl
Outer	chr17:73554767..73555156	hg19	UCSC Ensembl
Inner	chr17:71066511..71066611	hg18	UCSC Ensembl
Outer	chr17:71066362..71066751	hg18	UCSC Ensembl

Cytoband

17q25.1

Allele length

Assembly	Allele length
hg38	390
hg19	390
hg18	390

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4999909

Samples

NA18507

Known Genes

LLGL2

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)

esv2286878

Frequency

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