Variant Details

Variant: essv4839237

Internal ID

7078183

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:18571666..18571798	hg38	UCSC Ensembl
Outer	chr2:18571475..18571973	hg38	UCSC Ensembl
Inner	chr2:18752932..18753064	hg19	UCSC Ensembl
Outer	chr2:18752741..18753239	hg19	UCSC Ensembl
Inner	chr2:18616413..18616545	hg18	UCSC Ensembl
Outer	chr2:18616222..18616720	hg18	UCSC Ensembl

Cytoband

2p24.2

Allele length

Assembly	Allele length
hg38	499
hg19	499
hg18	499

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2229780

Supporting Variants

Samples

NA18507

Known Genes

NT5C1B, NT5C1B-RDH14

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)

essv4839237

Frequency

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