Variant Details

Variant: esv2171055

Internal ID

7495480

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr9:133514092..133514429	hg38	UCSC Ensembl
Outer	chr9:133513899..133514636	hg38	UCSC Ensembl
Inner	chr9:136379214..136379551	hg19	UCSC Ensembl
Outer	chr9:136379021..136379758	hg19	UCSC Ensembl
Inner	chr9:135369035..135369372	hg18	UCSC Ensembl
Outer	chr9:135368842..135369579	hg18	UCSC Ensembl

Cytoband

9q34.2

Allele length

Assembly	Allele length
hg38	738
hg19	738
hg18	738

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4823885

Samples

NA18507

Known Genes

TMEM8C

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)

esv2171055

Frequency

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