Variant Details

Variant: essv4677526

Internal ID

7263158

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr21:46192468..46192691	hg38	UCSC Ensembl
Outer	chr21:46192397..46192841	hg38	UCSC Ensembl
Inner	chr21:47612382..47612605	hg19	UCSC Ensembl
Outer	chr21:47612311..47612755	hg19	UCSC Ensembl
Inner	chr21:46436810..46437033	hg18	UCSC Ensembl
Outer	chr21:46436739..46437183	hg18	UCSC Ensembl

Cytoband

21q22.3

Allele length

Assembly	Allele length
hg38	445
hg19	445
hg18	445

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv1986816

Supporting Variants

Samples

NA18507

Known Genes

LSS

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)

essv4677526

Frequency

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