Variant Details

Variant: esv2279381

Internal ID

7603806

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr9:112230961..112231332	hg38	UCSC Ensembl
Outer	chr9:112230770..112231510	hg38	UCSC Ensembl
Inner	chr9:114993241..114993612	hg19	UCSC Ensembl
Outer	chr9:114993050..114993790	hg19	UCSC Ensembl
Inner	chr9:114033062..114033433	hg18	UCSC Ensembl
Outer	chr9:114032871..114033611	hg18	UCSC Ensembl

Cytoband

9q32

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

Supporting Variants

essv4797015

Samples

NA18507

Known Genes

MIR3134, PTBP3

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)

esv2279381

Frequency

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