Variant Details

Variant: esv2056669

Internal ID

7381094

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr22:27770673..27770728	hg38	UCSC Ensembl
Outer	chr22:27770491..27770926	hg38	UCSC Ensembl
Inner	chr22:28166661..28166716	hg19	UCSC Ensembl
Outer	chr22:28166479..28166914	hg19	UCSC Ensembl
Inner	chr22:26496661..26496716	hg18	UCSC Ensembl
Outer	chr22:26496479..26496914	hg18	UCSC Ensembl

Cytoband

22q12.1

Allele length

Assembly	Allele length
hg38	436
hg19	436
hg18	436

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4561498

Samples

NA18507

Known Genes

MN1

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)

esv2056669

Frequency

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