Variant Details

Variant: esv2272803

Internal ID

7597228

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr22:17616768..17617137	hg38	UCSC Ensembl
Outer	chr22:17616648..17617272	hg38	UCSC Ensembl
Inner	chr22:18099534..18099903	hg19	UCSC Ensembl
Outer	chr22:18099414..18100038	hg19	UCSC Ensembl
Inner	chr22:16479534..16479903	hg18	UCSC Ensembl
Outer	chr22:16479414..16480038	hg18	UCSC Ensembl

Cytoband

22q11.21

Allele length

Assembly	Allele length
hg38	625
hg19	625
hg18	625

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4526115

Samples

NA18507

Known Genes

ATP6V1E1

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)

esv2272803

Frequency

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