Variant Details

Variant: esv2338710

Internal ID

8009821

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr12:13046153..13046239	hg38	UCSC Ensembl
Outer	chr12:13045960..13046449	hg38	UCSC Ensembl
Inner	chr12:13199087..13199173	hg19	UCSC Ensembl
Outer	chr12:13198894..13199383	hg19	UCSC Ensembl
Inner	chr12:13090354..13090440	hg18	UCSC Ensembl
Outer	chr12:13090161..13090650	hg18	UCSC Ensembl

Cytoband

12p13.1

Allele length

Assembly	Allele length
hg38	490
hg19	490
hg18	490

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4875228

Samples

NA18507

Known Genes

KIAA1467

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)

esv2338710

Frequency

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