Variant Details

Variant: essv4874951

Internal ID

7460583

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:10487934..10488140	hg38	UCSC Ensembl
Outer	chr2:10487844..10488249	hg38	UCSC Ensembl
Inner	chr2:10628060..10628266	hg19	UCSC Ensembl
Outer	chr2:10627970..10628375	hg19	UCSC Ensembl
Inner	chr2:10545511..10545717	hg18	UCSC Ensembl
Outer	chr2:10545421..10545826	hg18	UCSC Ensembl

Cytoband

2p25.1

Allele length

Assembly	Allele length
hg38	406
hg19	406
hg18	406

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2286752

Supporting Variants

Samples

NA18507

Known Genes

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)

essv4874951

Frequency

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