Variant Details

Variant: essv4789279

Internal ID

7374911

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr3:180669076..180688844	hg38	UCSC Ensembl
Outer	chr3:180669007..180688904	hg38	UCSC Ensembl
Inner	chr3:180386864..180406632	hg19	UCSC Ensembl
Outer	chr3:180386795..180406692	hg19	UCSC Ensembl
Inner	chr3:181869558..181889326	hg18	UCSC Ensembl
Outer	chr3:181869489..181889386	hg18	UCSC Ensembl

Cytoband

3q26.33

Allele length

Assembly	Allele length
hg38	19898
hg19	19898
hg18	19898

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2244500

Supporting Variants

Samples

NA18507

Known Genes

CCDC39

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)

essv4789279

Frequency

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