Variant Details

Variant: essv4696405

Internal ID

6935351

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr3:10355793..10356123	hg38	UCSC Ensembl
Outer	chr3:10355593..10356333	hg38	UCSC Ensembl
Inner	chr3:10397477..10397807	hg19	UCSC Ensembl
Outer	chr3:10397277..10398017	hg19	UCSC Ensembl
Inner	chr3:10372477..10372807	hg18	UCSC Ensembl
Outer	chr3:10372277..10373017	hg18	UCSC Ensembl

Cytoband

3p25.3

Allele length

Assembly	Allele length
hg38	741
hg19	741
hg18	741

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2131051

Supporting Variants

Samples

NA18507

Known Genes

ATP2B2

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)

essv4696405

Frequency

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