Variant Details

Variant: esv2259520

Internal ID

7583945

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:248744524..248744615	hg38	UCSC Ensembl
Outer	chr1:248744364..248744765	hg38	UCSC Ensembl
Inner	chr1:248907825..248907916	hg19	UCSC Ensembl
Outer	chr1:248907665..248908066	hg19	UCSC Ensembl
Inner	chr1:246974448..246974539	hg18	UCSC Ensembl
Outer	chr1:246974288..246974689	hg18	UCSC Ensembl

Cytoband

1q44

Allele length

Assembly	Allele length
hg38	402
hg19	402
hg18	402

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4859515

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)

esv2259520

Frequency

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