Variant Details

Variant: essv4553002

Internal ID

6791948

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr12:123390741..123395064	hg38	UCSC Ensembl
Outer	chr12:123390630..123395201	hg38	UCSC Ensembl
Inner	chr12:123875288..123879611	hg19	UCSC Ensembl
Outer	chr12:123875177..123879748	hg19	UCSC Ensembl
Inner	chr12:122441241..122445564	hg18	UCSC Ensembl
Outer	chr12:122441130..122445701	hg18	UCSC Ensembl

Cytoband

12q24.31

Allele length

Assembly	Allele length
hg38	4572
hg19	4572
hg18	4572

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2417445

Supporting Variants

Samples

NA18507

Known Genes

SETD8

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)

essv4553002

Frequency

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