Variant Details

Variant: essv4504729

Internal ID

7090361

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr13:36232654..36232728	hg38	UCSC Ensembl
Outer	chr13:36232460..36232931	hg38	UCSC Ensembl
Inner	chr13:36806791..36806865	hg19	UCSC Ensembl
Outer	chr13:36806597..36807068	hg19	UCSC Ensembl
Inner	chr13:35704791..35704865	hg18	UCSC Ensembl
Outer	chr13:35704597..35705068	hg18	UCSC Ensembl

Cytoband

13q13.3

Allele length

Assembly	Allele length
hg38	472
hg19	472
hg18	472

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2095309

Supporting Variants

Samples

NA18507

Known Genes

CCDC169, CCDC169-SOHLH2

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)

essv4504729

Frequency

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