Variant Details

Variant: essv5000850

Internal ID

7239796

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr12:88119081..88119099	hg38	UCSC Ensembl
Outer	chr12:88118874..88119310	hg38	UCSC Ensembl
Inner	chr12:88512858..88512876	hg19	UCSC Ensembl
Outer	chr12:88512651..88513087	hg19	UCSC Ensembl
Inner	chr12:87036989..87037007	hg18	UCSC Ensembl
Outer	chr12:87036782..87037218	hg18	UCSC Ensembl

Cytoband

12q21.32

Allele length

Assembly	Allele length
hg38	437
hg19	437
hg18	437

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2157492

Supporting Variants

Samples

NA18507

Known Genes

CEP290

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)

essv5000850

Frequency

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