Variant Details

Variant: esv2072718

Internal ID

7743829

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr9:93968079..93968393	hg38	UCSC Ensembl
Outer	chr9:93967976..93968519	hg38	UCSC Ensembl
Inner	chr9:96730361..96730675	hg19	UCSC Ensembl
Outer	chr9:96730258..96730801	hg19	UCSC Ensembl
Inner	chr9:95770182..95770496	hg18	UCSC Ensembl
Outer	chr9:95770079..95770622	hg18	UCSC Ensembl

Cytoband

9q22.32

Allele length

Assembly	Allele length
hg38	544
hg19	544
hg18	544

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4709123

Samples

NA18507

Known Genes

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)

esv2072718

Frequency

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