Variant Details

Variant: essv4899215

Internal ID

7138161

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr12:192832..192922	hg38	UCSC Ensembl
Outer	chr12:192666..193087	hg38	UCSC Ensembl
Inner	chr12:301998..302088	hg19	UCSC Ensembl
Outer	chr12:301832..302253	hg19	UCSC Ensembl
Inner	chr12:172259..172349	hg18	UCSC Ensembl
Outer	chr12:172093..172514	hg18	UCSC Ensembl

Cytoband

12p13.33

Allele length

Assembly	Allele length
hg38	422
hg19	422
hg18	422

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2319687

Supporting Variants

Samples

NA18507

Known Genes

SLC6A12

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)

essv4899215

Frequency

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