Variant Details

Variant: esv2072832

Internal ID

7743943

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr21:45859288..45859319	hg38	UCSC Ensembl
Outer	chr21:45859086..45859523	hg38	UCSC Ensembl
Inner	chr21:47279202..47279233	hg19	UCSC Ensembl
Outer	chr21:47279000..47279437	hg19	UCSC Ensembl
Inner	chr21:46103630..46103661	hg18	UCSC Ensembl
Outer	chr21:46103428..46103865	hg18	UCSC Ensembl

Cytoband

21q22.3

Allele length

Assembly	Allele length
hg38	438
hg19	438
hg18	438

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4615305

Samples

NA18507

Known Genes

PCBP3

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)

esv2072832

Frequency

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