Variant Details

Variant: esv2222990

Internal ID

7547415

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr11:106725156..106725439	hg38	UCSC Ensembl
Outer	chr11:106724962..106725629	hg38	UCSC Ensembl
Inner	chr11:106595882..106596165	hg19	UCSC Ensembl
Outer	chr11:106595688..106596355	hg19	UCSC Ensembl
Inner	chr11:106101092..106101375	hg18	UCSC Ensembl
Outer	chr11:106100898..106101565	hg18	UCSC Ensembl

Cytoband

11q22.3

Allele length

Assembly	Allele length
hg38	668
hg19	668
hg18	668

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4997665

Samples

NA18507

Known Genes

GUCY1A2

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)

esv2222990

Frequency

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