Variant Details

Variant: essv4658821

Internal ID

7244453

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:217809132..217809556	hg38	UCSC Ensembl
Outer	chr2:217809022..217809610	hg38	UCSC Ensembl
Inner	chr2:218673855..218674279	hg19	UCSC Ensembl
Outer	chr2:218673745..218674333	hg19	UCSC Ensembl
Inner	chr2:218382100..218382524	hg18	UCSC Ensembl
Outer	chr2:218381990..218382578	hg18	UCSC Ensembl

Cytoband

2q35

Allele length

Assembly	Allele length
hg38	589
hg19	589
hg18	589

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2229410

Supporting Variants

Samples

NA18507

Known Genes

TNS1

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)

essv4658821

Frequency

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